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Test Descriptions Found:

1693

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Test Available Sequencing Del/Dup Other
'Bull's Eye' Macular Dystrophy (BEM), Cone-Rod Dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene$640.00$690.00
2q23.1 Microdeletion Syndrome and Autism Spectrum Disorder via the MBD5 Gene$640.00$690.00
3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene$680.00$690.00
3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH Gene$640.00$690.00
3-M Syndrome via CCDC8 Gene Sequencing with CNV Detection$890.00
3-M Syndrome via the CUL7 Gene$640.00$690.00
3-Methylcrotonyl-CoA Carboxylase Deficiency via MCCC1 Gene Sequencing with CNV Detection$890.00
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 Gene$640.00$690.00
3-Methylglutaconic Aciduria Type I via the AUH Gene$640.00$690.00
46,XX Disorder of Sex Development (DSD) via WNT4 Gene Sequencing with CNV Detection$890.00
46,XY Disorder of Sex Development (DSD) via the HSD17B3 Gene$780.00$690.00
6-Pyruvoyltetrahydropterin Syntase (PTPS) Deficiency via the PTS Gene$650.00
ABCC8-Related Congenital Hyperinsulinism via the ABCC8 Gene$640.00$690.00
ADP Receptor Deficiency via the P2RY12 Gene$440.00$690.00
AIFM1-Related Disorders via the AIFM1 Gene$990.00$690.00
ALS2-Related Disorders via ALS2 Gene Sequencing with CNV Detection$890.00
AMT-Related Glycine Encephalopathy via the AMT Gene$640.00$690.00
Aarskog-Scott Syndrome via the FGD1 Gene$940.00$690.00
Aceruloplasminemia via CP Gene Sequencing with CNV Detection$890.00
Achondrogenesis Type 1A via TRIP11 Gene Sequencing with CNV Detection$890.00
Achondrogenesis Type 1B (ACG1B) via the SLC26A2 Gene$650.00$690.00
Achondroplasia via the FGFR3 Gene, Exon 10$250.00$690.00
Achromatopsia (ACHM) via the CNGA3 Gene$650.00$690.00
Achromatopsia (ACHM) via the GNAT2 Gene$650.00$690.00
Achromatopsia 6 or Retinal Cone Dystrophy 3 via PDE6H Gene Sequencing with CNV Detection$890.00
Achromatopsia via the CNGB3 Gene$640.00$690.00
Achromatopsia via the PDE6C Gene$640.00$690.00
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene$640.00$690.00
Acrofacial Dysostosis 1, Nagar Type via SF3B4 Gene Sequencing with CNV Detection$890.00
Acute Intermittent Porphyria via HMBS Gene Sequencing with CNV Detection$890.00
Acute Myeloid Leukemia (AML) via CEBPA Gene Sequencing with CNV Detection$890.00
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene$640.00$690.00
Adams-Oliver Syndrome via the DOCK6 Gene$640.00
Adenosine Deaminase Deficiency via the ADA Gene$810.00$690.00
Adenylosuccinase Deficiency via the ADSL Gene$640.00$690.00
Agnathia-Otocephaly Complex via PRRX1 Gene Sequencing with CNV Detection$890.00
Aicardi-Goutiéres Syndrome 5 via the SAMHD1 Gene$640.00$690.00
Aicardi-Goutières Syndrome 3 via the RNASEH2C Gene$540.00$690.00
Aicardi-Goutières Syndrome 2 via the RNASEH2B Gene$640.00$690.00
Aicardi-Goutières Syndrome 7 and Singleton-Merton Syndrome 1 via the IFIH1 Gene$640.00
Alagille Syndrome-1 via the JAG1 Gene$640.00$690.00
Alexander Disease via GFAP Gene Sequencing with CNV Detection$890.00
Alkaptonuria via the HGD Gene$910.00
Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via SLC16A2 Gene Sequencing with CNV Detection$890.00
Alpha-1 Antitrypsin Deficiency via the SERPINA1 Gene$680.00$690.00
Alpha-Mannosidosis via the MAN2B1 Gene$1280.00
Alpha-Thalassemia X-linked Intellectual Disability Syndrome via the ATRX Gene$2270.00$690.00
Alport Syndrome (AS) via the COL4A3 Gene$640.00$690.00
Alport Syndrome (AS) via the COL4A4 Gene$640.00$690.00
Alport Syndrome (AS) via the COL4A5 Gene$640.00$690.00
Alstrom Syndrome via ALMS1 Gene Sequencing with CNV Detection$890.00
Alzheimer Disease, Familial or Cerebral Amyloid Angiopathy via the APP Gene$640.00$690.00
Alzheimer's Disease, Familial via the APP Gene, Exons 16 and 17$370.00$690.00
Alzheimer's Disease, Familial via the PSEN1 Gene$640.00$690.00
Alzheimer's Disease, Familial via the PSEN2 Gene$640.00$690.00
Amelogenesis Imperfecta via ENAM Gene Sequencing with CNV Detection$890.00
Amelogenesis Imperfecta via FAM83H Gene Sequencing with CNV Detection$890.00
Amelogenesis Imperfecta via MMP20 Gene Sequencing with CNV Detection$890.00
Amelogenesis Imperfecta via WDR72 Gene Sequencing with CNV Detection$890.00
Amelogenesis Imperfecta via the AMELX Gene$440.00$690.00
Amelogenesis Imperfecta via the C4orf26 Gene$490.00
Amelogenesis Imperfecta via the DLX3 Gene$490.00$690.00
Amelogenesis Imperfecta via the KLK4 Gene$610.00$690.00
Amelogenesis Imperfecta with Gingival Hyperplasia Syndrome and Amelogenesis Imperfecta with Renal Syndrome via the FAM20A Gene$640.00$690.00
Aminoacylase-1 Deficiency via the ACY1 Gene$640.00$690.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via ANXA11 Gene Sequencing with CNV Detection$890.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene$640.00$690.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via CHMP2B Gene Sequencing with CNV Detection$890.00
Amyotrophic Lateral Sclerosis via UBQLN2 Gene Sequencing with CNV Detection$890.00
Amyotrophic Lateral Sclerosis via the ANG Gene$370.00$690.00
Amyotrophic Lateral Sclerosis via the OPTN Gene$640.00$690.00
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via PFN1 Gene Sequencing with CNV Detection$890.00
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via SOD1 Gene Sequencing with CNV Detection$890.00
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via TARDBP Gene Sequencing with CNV Detection$580.00
Amyotrophic lateral sclerosis (ALS) via the hnRNPA1 Gene$680.00
Andermann Syndrome via the SLC12A6 Gene$640.00
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene$440.00$690.00
Androgen Insensitivity Syndrome (AIS) via the Androgen Receptor (AR) Gene$990.00$690.00
Angelman Syndrome via UBE3A Gene Sequencing with CNV Detection$890.00
Aniridia via PAX6 Gene Sequencing with CNV Detection$890.00
Anterior Segment Dysgenesis via FOXE3 Gene Sequencing with CNV Detection$890.00
Anti-Plasmin Deficiency via SERPINF2 Gene Sequencing with CNV Detection$890.00
Antithrombin Deficiency via SERPINC1 Gene Sequencing with CNV Detection$890.00
Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 Gene$640.00$690.00
Apparent Mineralocorticoid Excess via the HSD11B2 Gene$680.00$690.00
Argininemia via the ARG1 Gene$640.00$690.00
Argininosuccinate Lyase Deficiency via the ASL Gene$970.00$690.00
Aromatic L-amino Acid Decarboxylase Deficiency via DDC Gene Sequencing with CNV Detection$890.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene$640.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via TGFB3 Gene Sequencing with CNV Detection$890.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSC2 Gene$640.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSG2 Gene$640.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene$840.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TMEM43 Gene$640.00$690.00
Arterial tortuosity syndrome (ATS) via the SLC2A10 Gene$640.00$690.00
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VIPAS39 Gene$640.00$690.00
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VPS33B Gene$640.00$690.00
Aspartylglucosaminuria via the AGA Gene$750.00
Ataxia telangiectasia Syndrome via ATM Gene Sequencing with CNV Detection$540.00
Ataxia-telangiectasia-like disorder via the MRE11/MRE11A Gene$640.00$690.00
Atelosteogenesis type 2 (AO2) via the SLC26A2 Gene$650.00$690.00
Atrial Fibrillation Syndrome via MYL4 Gene Sequencing with CNV Detection$890.00
Atrial Fibrillation Syndrome via the KCNA5 Gene$250.00
Atrial Fibrillation Syndrome via the NPPA Gene$490.00
Atrial Fibrillation via the GJA5 Gene$490.00$690.00
Atypical Hemolytic-Uremic Syndrome and Nephrotic Syndrome via the DGKE Gene$640.00$690.00
Autism Spectrum Disorders (ASD) via the NLGN4X Gene$910.00$690.00
Autism Spectrum Disorders via CHD8 Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders via DSCAM Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders via FOXP1 Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders via KMT5B (SUV420H1) Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders via TRIP12 Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders/Intellectual Disability via ASH1L Gene Sequencing with CNV Detection$890.00
Autoimmune Lymphoproliferative Syndrome via FAS Gene Sequencing with CNV Detection$890.00
Autoimmune Polyendocrinopathy Syndrome Type 1 via the AIRE Gene$970.00$690.00
Autosomal Domianant DOPA-Responsive Dystonia via GCH1 Gene Sequencing with CNV Detection$890.00
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via the GUCA1A Gene$490.00$690.00
Autosomal Dominant Cone-Rod Dystrophy via the RIMS1 Gene$640.00$690.00
Autosomal Dominant Hyper IgE Syndrome via the STAT3 Gene$640.00$690.00
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E (LGMD1E) via the DNAJB6 Gene$640.00$690.00
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNA4 Gene$640.00
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNB2 Gene$650.00
Autosomal Dominant Optic Atrophy (ADOA) or Optic Atrophy, Kjer-Type (OAK) and DOA Plus Syndrome (DOA+) via the OPA1 Gene$640.00$690.00
Autosomal Dominant Optic atrophy with cataract (ADOAC) and Costeff Syndrome or 3-methylglutaconic aciduria, type III (MGA3) via the OPA3 Gene$490.00$690.00
Autosomal Dominant Polycystic Kidney Disease via the PKD1 Gene$1240.00$540.00
Autosomal Dominant Polycystic Kidney Disease via the PKD2 Gene$680.00$690.00
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via SLC25A4 Gene Sequencing with CNV Detection$890.00
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-Related Disorders via TWNK/C10orf2 Gene Sequencing with CNV Detection$890.00
Autosomal Dominant Progressive External Ophthalmoplegia via the DNA2 Gene$640.00$690.00
Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene$640.00$690.00
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene$640.00$690.00
Autosomal Dominant Retinitis Pigmentosa 17 (RP17) via CA4 Gene Sequencing with CNV Detection$890.00
Autosomal Dominant Retinitis Pigmentosa 31 (RP31) via TOPORS Gene Sequencing with CNV Detection$890.00
Autosomal Dominant Retinitis Pigmentosa 48 (RP48) via the GUCA1B Gene$490.00$690.00
Autosomal Dominant Retinitis pigmentosa 27 (RP27) and Autosomal Recessive Retinal Degeneration, Clumped Pigment Type via the NRL Gene$490.00$690.00
Autosomal Dominant Stargardt disease (STGD3) via the ELOVL4 Gene$610.00
Autosomal Dominant, Non-Syndromic Holoprosencephaly via GAS1 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOX12B Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOXE3 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via CYP4F22 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via PNPLA1 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene$2670.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the NIPAL4 Gene$610.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the TGM1 Gene$970.00$690.00
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via ALDH18A1 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via ATP6V0A2 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive DOPA-Responsive Dystonia via the TH Gene$840.00$690.00
Autosomal Recessive Hyper IgE Syndrome via the DOCK8 Gene$640.00$690.00
Autosomal Recessive Isolated Ectopia Lentis-2 via ADAMTSL4 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via the MPC1 (BRP44L) Gene$610.00
Autosomal Recessive Polycystic Kidney Disease via the PKHD1 Gene$640.00$690.00
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene$640.00$690.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via AGT Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via AGTR1 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the ACE Gene$640.00$690.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the REN Gene$640.00$690.00
Autosomal Recessive Retinitis Pigmentosa 26 (RP26) via the CERKL Gene$640.00$690.00
Autosomal Recessive Retinitis Pigmentosa 36 (RP36) via the PRCD Gene$490.00
Autosomal Recessive Retinitis Pigmentosa via FLVCR1 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Retinitis Pigmentosa via SLC7A14 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Retinitis Pigmentosa via the EYS Gene$640.00
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) via the SACS Gene$1960.00$690.00
Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene$640.00$690.00
Autosomal Recessive Spinocerebellar Ataxia-10 via the ANO10 Gene$860.00$690.00
Autosomal Recessive Transient Infantile Liver Failure (LFIT) via TRMU Gene Sequencing with CNV Detection$890.00
Autosomal-Recessive Intellectual Disability via the NRXN1 Gene$640.00$690.00
BRAF-Related Disorders via BRAF Gene Sequencing with CNV Detection$890.00
Bamforth-Lazarus Syndrome via FOXE1 Gene Sequencing with CNV Detection$890.00
Baraitser-Winter Cerebrofrontofacial Syndrome Type 1 (Syndromic Intellectual Disability) via ACTB Gene Sequencing with CNV Detection$890.00
Bardet-Biedl Syndrome via TRIM32/BBS11 Gene Sequencing with CNV Detection$890.00
Bardet-Biedl Syndrome via the ARL6/BBS3 Gene$610.00$690.00
Bardet-Biedl Syndrome via the BBS1 Gene$890.00$690.00
Bardet-Biedl Syndrome via the BBS10 Gene$580.00$690.00
Bardet-Biedl Syndrome via the BBS12 Gene$580.00$690.00
Bardet-Biedl Syndrome via the BBS2 Gene$640.00$690.00
Bardet-Biedl Syndrome via the BBS4 Gene$640.00$690.00
Bardet-Biedl Syndrome via the BBS5 Gene$640.00$690.00
Bardet-Biedl Syndrome via the BBS7 Gene$990.00$690.00
Bardet-Biedl Syndrome via the BBS9 Gene$640.00$690.00
Bardet-Biedl Syndrome via the MKKS/BBS6 Gene$650.00$690.00
Bardet-Biedl Syndrome via the TTC8/BBS8 Gene$640.00$690.00
Barth Syndrome via TAZ Gene Sequencing with CNV Detection$890.00
Bartter Syndrome Type 1 via the SLC12A1 Gene$640.00$690.00
Bartter Syndrome Type 2 via the KCNJ1 Gene$610.00$690.00
Bartter Syndrome Type 4 via the BSND Gene$580.00$690.00
Beckwith-Wiedemann Syndrome via CDKN1C Gene Sequencing with CNV Detection$890.00
Benign Flecked Retina Disorder via PLA2G5 Gene Sequencing with CNV Detection$890.00
Bernard-Soulier Syndrome via GP1BA Gene Sequencing with CNV Detection$890.00
Bernard-Soulier Syndrome via the GP1BB Gene$490.00$690.00
Bernard-Soulier Syndrome via the GP9 Gene$370.00$690.00
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via BEST1 Gene Sequencing with CNV Detection$890.00
Beta-Thalassemia and Hemoglobinopathy via the HBB Gene$490.00
Beta-propeller Protein-Associated Neurodegeneration (BPAN) via WDR45 Gene Sequencing with CNV Detection$890.00
Bietti Crystalline Corneoretinal Dystrophy via CYP4V2 Gene Sequencing with CNV Detection$890.00
Bilateral frontoparietal polymicrogyria (BFPP) via the ADGRG1 (GPR56) Gene$840.00$690.00
Biotin-Thiamine-Responsive Basal Ganglia Disease via the SLC19A3 Gene$680.00$690.00
Birt-Hogg-Dube Syndrome via FLCN Gene Sequencing with CNV Detection$890.00
Bjornstad Syndrome via the BCS1L Gene$650.00
Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via the FOXL2 Gene$610.00$690.00
Bloom's Syndrome via the BLM Gene$640.00$690.00
Bohring-Opitz Syndrome via ASXL1 Gene Sequencing with CNV Detection$890.00
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via NR2F1 Gene Sequencing with CNV Detection$890.00
Brachydactyly via the CHSY1 Gene$910.00
Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency via BCKDK Gene Sequencing with CNV Detection$890.00
Branchio-Oculo-Facial Syndrome (BOFS) via TFAP2A Gene Sequencing with CNV Detection$890.00
Branchiootorenal Syndrome via SIX5 Gene Sequencing with CNV Detection$890.00
Branchiootorenal syndrome via the EYA1 Gene$640.00$690.00
Branchiootorenal syndrome via the SIX1 Gene$440.00$690.00
Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A3 Gene$630.00$690.00
Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A2 Gene$440.00$690.00
Brugada Syndrome 1 via the SCN5A Gene$640.00$690.00
Brugada Syndrome via RANGRF Gene Sequencing with CNV Detection$890.00
Brugada Syndrome via SCN3B Gene Sequencing with CNV Detection$890.00
Brugada Syndrome via the CACNB2 Gene$680.00$690.00
Brugada Syndrome via the GPD1L Gene$710.00$690.00
Brugada Syndrome via the KCNE3 Gene$250.00$690.00
Brugada Syndrome via the SCN1B Gene$680.00$690.00
Butyrylcholinesterase Deficiency via the BCHE Gene$610.00
CADASIL1 via the NOTCH3 Gene$640.00
CADASIL2 and CARASIL via the HTRA1 Gene$640.00
CANDLE Syndrome via the PSMB8 Gene$650.00$690.00
CASK Related Disorders, Microcephaly with Pontine and Cerebellar Hypoplasia, X-linked intellectual disability with or without Nystagmus and FG Syndrome Type 4 via the CASK Gene$1440.00$690.00
CBL-Related Disorders via the CBL Gene$640.00$690.00
CDC73-Related Disorders via the CDC73 Gene$640.00$690.00
CENPJ-Related Disorders via CENPJ Gene Sequencing with CNV Detection$890.00
CHARGE Syndrome via the SEMA3E Gene$640.00
CHARGE and Kallmann Syndromes via the CHD7 Gene$640.00$690.00
CHOPS Syndrome via the AFF4 Gene$640.00
COL2A1-Related Disorders via the COL2A1 Gene$640.00$690.00
COMP-Related Disorders via the COMP Gene$640.00$690.00
Cabezas X-Linked Mental Retardation Syndrome via the CUL4B Gene$1090.00$690.00
Camurati-Engelmann Disease (CED) via TGFB1 Gene Sequencing with CNV Detection$890.00
Canavan Disease (Aspartoacylase Deficiency) via the ASPA Gene$680.00
Cantu Syndrome via the ABCC9 Gene$640.00$690.00
Cardio-Facio-Cutaneous Syndrome via MAP2K1 Gene Sequencing with CNV Detection$890.00
Cardio-Facio-Cutaneous Syndrome via MAP2K2 Gene Sequencing with CNV Detection$890.00
Carney Complex (CNC) via PRKAR1A Gene Sequencing with CNV Detection$890.00
Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene$640.00$690.00
Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene$680.00$690.00
Carnitine-Acylcarnitine Translocase Deficiency via the SLC25A20 Gene$640.00$690.00
Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP Gene$250.00$690.00
Cataract 17, Multiple Types (CTRCT17) via CRYBB1 Gene Sequencing with CNV Detection$890.00
Cataract 19 (CTRCT19) via LIM2 Gene Sequencing with CNV Detection$890.00
Cataract 22, Multiple Types (CTRCT22) via the CRYBB3 Gene$610.00
Cataract 23 (CTRCT23) via CRYBA4 Gene Sequencing with CNV Detection$890.00
Cataract 3, Multiple Types (CTRCT3) via CRYBB2 Gene Sequencing with CNV Detection$890.00
Cataract 9, Multiple Types (CTRCT9) via the CRYAA Gene$490.00
Cataract Type 11 via PITX3 Gene Sequencing with CNV Detection$890.00
Cataract Type 14 via the GJA3 Gene$540.00
Cataract Type 2 (CTRCT2) via the CRYGC Gene$490.00
Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via the CALM1 Gene$650.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 Gene$640.00$690.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene$640.00$690.00
Caveolinopathy via the CAV3 Gene$440.00$690.00
Centronuclear Myopathy, X-Linked via the MTM1 Gene$640.00$690.00
Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 Gene$640.00$690.00
Centronuclear Myopathy-3, Autosomal Dominant via MYF6 Gene Sequencing with CNV Detection$890.00
Centronuclear Myopathy-4, Autosomal Dominant (CNM4) via the CCDC78 Gene$640.00$690.00
Cerebral Cavernous Malformations via KRIT1/CCM1 Gene Sequencing with CNV Detection$890.00
Cerebral Cavernous Malformations via PDCD10/CCM3 Gene Sequencing with CNV Detection$890.00
Cerebral Cavernous Malformations via the CCM2 Gene$640.00$690.00
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10$250.00$690.00
Cerebral Folate Deficiency via the FOLR1 Gene$440.00$690.00
CerebroTendinous Xanthomatosis (CTX) via the CYP27A1 Gene$750.00$690.00
Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via CTC1 Gene Sequencing with CNV Detection$890.00
Char Syndrome via the TFAP2B Gene$710.00$690.00
Charcot Marie Tooth Disease via the COX6A1 Gene$490.00$690.00
Charcot Marie Tooth Type 2U via the MARS Gene$640.00$690.00
Charcot Marie Tooth Type 4J via the FIG4 Gene$640.00$690.00
Charcot-Marie-Tooth 1C via the LITAF Gene$490.00$690.00
Charcot-Marie-Tooth Type 2E/1F via NEFL Gene Sequencing with CNV Detection$890.00
Charcot-Marie-Tooth Type 4B1 via the MTMR2 Gene$640.00$690.00
Charcot-Marie-Tooth Type 4B3 via the SBF1 Gene$640.00$690.00
Charcot-Marie-Tooth Type 4D via NDRG1 Gene Sequencing with CNV Detection$890.00
Charcot-Marie-Tooth Type X-linked Dominant 6 via the PDK3 Gene$640.00$690.00
Charcot-Marie-Tooth disease, axonal, type 20, Spinal muscular atrophy with lower extremity predominance and Mental retardation, autosomal dominant type 13 via the DYNC1H1 Gene$640.00
Chediak-Higashi Syndrome (CHS) via the LYST Gene$640.00$690.00
Cherubism via SH3BP2 Gene Sequencing with CNV Detection$890.00
Childhood Absence Epilepsy and Epileptic Encephalopathy via the GABRB3 Gene$640.00$690.00
Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1) via the ARSE Gene$790.00$690.00
Chondrodysplasia with Joint Dislocations/Catel–Manzke Syndrome via the IMPAD1 Gene$750.00
Choroideremia via the CHM Gene$640.00$690.00
Christianson Type X-Linked Mental Retardation via the SLC9A6 Gene$640.00$690.00
Chronic Granulomatous Disease via NCF2 Gene Sequencing with CNV Detection$890.00
Chronic Granulomatous Disease via the CYBA Gene$650.00$690.00
Chronic Granulomatous Disease via the CYBB Gene$640.00$690.00
Chronic Hereditary Pancreatitis via CPA1 Gene Sequencing with CNV Detection$890.00
Chronic Hereditary Pancreatitis via SPINK1 Gene Sequencing with CNV Detection$890.00
Chronic Hereditary Pancreatitis via the PRSS1 Gene$650.00$690.00
Chronic Joint Pain and Dysfunction via MMP13 Gene Sequencing with CNV Detection$890.00
Chronic Pancreatitis via Chymotrypsin C (CTRC) Gene Sequencing with CNV Detection$890.00
Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene$640.00
Citrullinemia, Type I via the ASS1 Gene$840.00$690.00
Classic Lissencephaly via the DCX Gene$610.00$690.00
Classic lissencephaly via the PAFAH1B1/LIS1 Gene$710.00$690.00
Cleidocranial Dysplasia (CCD) via RUNX2 Gene Sequencing with CNV Detection$890.00
Cockayne Syndrome via the ERCC6 Gene$640.00$690.00
Cockayne Syndrome via the ERCC8 Gene$640.00$690.00
Cohen Syndrome via the VPS13B (COH1) Gene$640.00$690.00
Colorectal Cancer Predisposition via POLD1 Gene Sequencing with CNV Detection$540.00
Colorectal Cancer Predisposition via POLE Gene Sequencing with CNV Detection$540.00
Combined Factor V and Factor VIII Deficiency via MCFD2 Gene Sequencing with CNV Detection$890.00
Combined Factor V and Factor VIII Deficiency via the LMAN1 Gene$640.00$690.00
Combined Malonic and Methylmalonic Aciduria (CMAMMA) via ACSF3 Gene Sequencing with CNV Detection$890.00
Combined Oxidative Phosphorylation Deficiency 14 via the FARS2 Gene$650.00$690.00
Combined Pituitary Hormone Deficiency-2 (CPHD2) via the PROP1 Gene$490.00$690.00
Combined Pituitary Hormone Deficiency-4 (CPHD-4) via the LHX4 Gene$610.00$690.00
Common Variable Immune Deficiency/IgA Deficiency via the TNFRSF13B Gene$610.00$690.00
Compton-North Congenital Myopathy via the CNTN1 Gene$640.00$690.00
Cone-Rod Dystrophy (CORDX3) via the CACNA1F Gene$640.00$690.00
Cone-Rod Dystrophy (CRD11) via RAX2 (Qrx) Gene Sequencing with CNV Detection$890.00
Cone-Rod Dystrophy and Retinitis Pigmentosa via C8orf37 Gene Sequencing with CNV Detection$890.00
Cone-Rod Dystrophy via KCNV2 Gene Sequencing with CNV Detection$890.00
Cone-Rod Dystrophy via the CABP4 Gene$610.00$690.00
Cone-Rod Dystrophy via the CDHR1 Gene$640.00$690.00
Cone-Rod Dystrophy via the CNNM4 Gene$780.00$690.00
Cone-Rod Dystrophy via the UNC119 Gene$610.00$690.00
Congenital Abnormalities of Kidney and Urinary Tract (CAKUT) and VACTERL Association via TRAP1 Gene Sequencing with CNV Detection$890.00
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency via the CYP21A2 Gene$870.00
Congenital Amegakaryocytic Thrombocytopenia (CAMT) and Thrombocythemia 2 via the MPL Gene$710.00$690.00
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via FGF20 Gene Sequencing with CNV Detection$890.00
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via the DSTYK Gene$1020.00$690.00
Congenital Bile Acid Synthesis Defect Type 2 via the AKR1D1 Gene$640.00$690.00
Congenital Bile Acid Synthesis Defect-5 via the ABCD3 Gene$640.00
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene$640.00$690.00
Congenital Cataracts and Ayme-Gripp Syndrome via the MAF Gene$650.00
Congenital Cataracts via the BFSP1 Gene$640.00
Congenital Central Hypoventilation Syndrome (CCHS) via ASCL1 Gene Sequencing with CNV Detection$890.00
Congenital Central Hypoventilation Syndrome (CCHS) via PHOX2A Gene Sequencing with CNV Detection$890.00
Congenital Central Hypoventilation Syndrome (CCHS) via the BDNF Gene$490.00
Congenital Central Hypoventilation Syndrome (CCHS) via the BMP2 Gene$610.00$690.00
Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2B Gene$540.00$690.00
Congenital Contractural Arachnodactyly (Beals Syndrome) via the FBN2 Gene$640.00$690.00
Congenital Disorder of Glycosylation, Type Iu and Secondary Dystroglycanopathy via the DPM2 Gene$490.00$690.00
Congenital Disorders of Glycosylation (CDG) Sanger Sequencing Panel 1$1790.00$770.00
Congenital Disorders of Glycosylation (CDG) Sanger Sequencing Panel 2$3370.00$840.00
Congenital Disorders of Glycosylation, Type IIj via COG4 Gene Sequencing with CNV Detection$890.00
Congenital Disorders of Glycosylation, Type Ia (CDG-Ia) via the PMM2 Gene$650.00$690.00
Congenital Disorders of Glycosylation, Type Ib (CDG Ib) via the MPI Gene$650.00$690.00
Congenital Disorders of Glycosylation, Type Ic (CDG Ic) via the ALG6 Gene$810.00$690.00
Congenital Disorders of Glycosylation, Type Id (CDG Id) via ALG3 Gene Sequencing with CNV Detection$890.00
Congenital Disorders of Glycosylation, Type Ie (CDG Ie) via the DPM1 Gene$650.00$690.00
Congenital Disorders of Glycosylation, Type If (CDG If) via the MPDU1 Gene$610.00$690.00
Congenital Disorders of Glycosylation, Type Ig (CDG Ig) via ALG12 Gene Sequencing with CNV Detection$890.00
Congenital Disorders of Glycosylation, Type Ih (CDG Ih) via the ALG8 Gene$810.00$690.00
Congenital Disorders of Glycosylation, Type Ii (CDG Ii) via ALG2 Gene Sequencing with CNV Detection$890.00
Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy via the DPM3 Gene$490.00$690.00
Congenital Dyserythropoietic Anemia Type I via the C15orf41 Gene$640.00$690.00
Congenital Dyserythropoietic Anemia Type I via the CDAN1 Gene$640.00$690.00
Congenital Dyserythropoietic Anemia Type II via the SEC23B Gene$640.00$690.00
Congenital Erythropoietic Porphyria via the UROS Gene$640.00
Congenital Factor XIII Deficiency via F13B Gene Sequencing with CNV Detection$890.00
Congenital Factor XIII deficiency via the F13A1 Gene$640.00$690.00
Congenital Fibrinogen Deficiency via FGA Gene Sequencing with CNV Detection$890.00
Congenital Fibrinogen Deficiency via the FGB Gene$640.00$690.00
Congenital Fibrinogen Deficiency via the FGG Gene$640.00$690.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via TUBB3 Gene Sequencing with CNV Detection$890.00
Congenital Generalized Lipodystrophy (CGL) via the AGPAT2 Gene$640.00
Congenital Hereditary Endothelial Dystrophy Type 2 (CHED2) and Harboyan Syndrome via the SLC4A11 Gene$1060.00$690.00
Congenital Hypothyroidism (Central Hypothyroidism and Testicular Enlargement) via the IGSF1 Gene$640.00$690.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via NKX2-1/TTF1 Gene Sequencing with CNV Detection$890.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via the PAX8 Gene$640.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene$640.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOXA2 Gene$610.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the IYD/DEHAL1 Gene$650.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the SLC5A5/NIS Gene$640.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TG Gene$640.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TPO Gene$640.00$690.00
Congenital Hypothyroidism (Thyroid Hormone Resistance) via the THRA Gene$640.00$690.00
Congenital Hypothyroidism (Thyroid Stimulating Hormone Deficiency) via the TSHB Gene$440.00$690.00
Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via TRH Gene Sequencing with CNV Detection$890.00
Congenital Hypothyroidism and Neonatal Diabetes Mellitus via the GLIS3 Gene$640.00$690.00
Congenital Interstitial Lung Disease with Nephrotic Syndrome and Epidermolysis Bullosa (ILNEB) via the ITGA3 Gene$640.00$690.00
Congenital Methemoglobinemia via the CYB5R3 Gene$750.00$690.00
Congenital Muscular Dystrophy, Megaconial Type via the CHKB Gene$640.00$690.00
Congenital Myasthenic Syndrome With Episodic Apnea via the CHAT Gene$640.00$690.00
Congenital Myasthenic Syndrome via SYT2 Gene Sequencing with CNV Detection$890.00
Congenital Myasthenic Syndrome via the CHRNE Gene$640.00$690.00
Congenital Myasthenic Syndrome via the COLQ Gene$640.00$690.00
Congenital Myasthenic Syndrome via the GFPT1 Gene$640.00$690.00
Congenital Myasthenic Syndrome via the MUSK Gene$640.00$690.00
Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via CHRNA1 Gene Sequencing with CNV Detection$890.00
Congenital Myasthenic Syndromes and Multiple Pterygium Syndrome via the CHRND Gene$640.00$690.00
Congenital Myasthenic Syndromes via the CHRNB1 Gene$640.00$690.00
Congenital Myopathy (Native American Myopathy) via the STAC3 Gene$640.00$690.00
Congenital Nephrotic Syndrome via the NPHS1 Gene$640.00$690.00
Congenital Stationary Night Blindness and Retinal Degeneration via the SLC24A1 Gene$640.00$690.00
Congenital Stationary Night Blindness via LRIT3 Gene Sequencing with CNV Detection$890.00
Congenital Variant Rett syndrome or FOXG1 syndrome via the FOXG1 Gene$650.00$690.00
Conradi-Hunermann syndrome via EBP Gene Sequencing with CNV Detection$890.00
Cornelia de Lange Syndrome and Wiedemann-Steiner Syndrome via the KMT2A Gene$680.00
Cornelia de Lange Syndrome via the ANKRD11 Gene$840.00$690.00
Cornelia de Lange Syndrome via the HDAC8 Gene$640.00
Cornelia de Lange Syndrome via the NIPBL Gene$640.00$690.00
Cornelia de Lange Syndrome via the RAD21 Gene$640.00
Cornelia de Lange Syndrome via the SMC1A Gene$640.00$690.00
Cornelia de Lange Syndrome via the SMC3 Gene$640.00$690.00
Cortical Dysplasia-Focal Epilepsy Syndrome via the CNTNAP2 Gene$640.00$690.00
Costello Syndrome via the HRAS Gene$440.00$690.00
Cowden and Cowden-like Syndromes via the PIK3CA Gene$1100.00$690.00
Cranioectodermal Dysplasia 1 (CED1) via the IFT122 Gene$640.00$690.00
Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 Gene$640.00$690.00
Craniofrontonasal Syndrome via EFNB1 Gene Sequencing with CNV Detection$890.00
Craniosynostosis and Dental Anomalies, Autosomal Recessive Crouzon-like Craniosynostosis via IL11RA Gene Sequencing with CNV Detection$890.00
Craniosynostosis via the MSX2 Gene$490.00$690.00
Craniosynostosis via the TCF12 Gene$640.00
Creatine Deficiency Syndrome via GATM Gene Sequencing with CNV Detection$890.00
Creatine Deficiency Syndrome via the GAMT Gene$610.00$690.00
Creatine Deficiency Syndrome via the SLC6A8 Gene$990.00
Crigler-Najjar Syndrome and Gilbert Syndrome via the UGT1A1 Gene$680.00$690.00
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene$640.00$690.00
Currarino Syndrome via MNX1 Gene Sequencing with CNV Detection$890.00
Cutis Laxa via FBLN5 Gene Sequencing with CNV Detection$890.00
Cutis Laxa via LTBP4 Gene Sequencing with CNV Detection$890.00
Cutis Laxa via PYCR1 Gene Sequencing with CNV Detection$890.00
Cutis Laxa, Type 1B (ARCL1B) via EFEMP2 Gene Sequencing with CNV Detection$890.00
Cystathioninuria via CTH Gene Sequencing with CNV Detection$890.00
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene$640.00$690.00
Cystinosis via the CTNS Gene$810.00
Cystinuria via the SLC3A1 Gene$640.00
Cystinuria via the SLC7A9 Gene$640.00
Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via the PCK1 Gene$640.00$690.00
D-2-Hydroxyglutaric Aciduria Type I via D2HGDH Gene Sequencing with CNV Detection$890.00
D-2-Hydroxyglutaric Aciduria Type II via the IDH2 Gene - Targeted Variants Analysis$370.00
DGUOK-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the DGUOK Gene$650.00$690.00
DHH-related Disorders of Sex Development via DHH Gene Sequencing with CNV Detection$890.00
DICER1 Syndrome via the DICER1 Gene$640.00$690.00
DOORS Syndrome and TBC1D24-related Epilepsy via the TBC1D24 Gene$640.00$690.00
DYT1 Early-Onset Isolated Dystonia via TOR1A Gene Sequencing with CNV Detection$890.00
Danon Disease/Glycogen Storage Disease IIb via the LAMP2 Gene$690.00$690.00
Deafness, Autosomal Dominant 10 (DFNA10) via the EYA4 Gene$640.00$690.00
Deafness, Autosomal Dominant 12 (DFNA12) and Deafness, Autosomal Recessive 21 (DFNB21) via the TECTA Gene$640.00$690.00
Deafness, Autosomal Dominant 15 (DFNA15) via POU4F3 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 20 (DFNA20) via ACTG1 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 22 (DFNA22) and Deafness, Autosomal Recessive 37 (DFNB37) via the MYO6 Gene$640.00$690.00
Deafness, Autosomal Dominant 25 (DFNA25) via SLC17A8 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene$490.00$690.00
Deafness, Autosomal Dominant 36 (DFNA36) and Deafness, Autosomal Recessive 7 (DFNB7) via the TMC1 Gene$640.00$690.00
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene$490.00$690.00
Deafness, Autosomal Dominant 3B (DFNA3B) and Deafness, Autosomal Recessive 1B (DFNB1B) via the GJB6 Gene$490.00$690.00
Deafness, Autosomal Dominant 40 (DFNA40) via CRYM Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 44 (DFNA44) via the CCDC50 Gene$640.00$690.00
Deafness, Autosomal Dominant 4A (DFNA4A) via the MYH14 Gene$640.00$690.00
Deafness, Autosomal Dominant 4B (DFNA4B) via CEACAM16 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 51 (DFNA51) via the TJP2 Gene$640.00$690.00
Deafness, Autosomal Dominant 64 (DFNA64) via the DIABLO Gene$610.00$690.00
Deafness, Autosomal Dominant 69 (DFNA69), and Familial Progressive Hyperpigmentation with or without Hypopigmentation via KITLG Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 9 (DFNA9) and Autosomal Recessive Hearing Loss via the COCH Gene$640.00$690.00
Deafness, Autosomal Recessive 15 (DFNB15) via GIPC3 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 24 (DFNB24) via RDX Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 25 (DFNB25) via GRXCR1 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 29 (DFNB29) via the CLDN14 Gene$490.00$690.00
Deafness, Autosomal Recessive 3 (DFNB3) via the MYO15A Gene$640.00$690.00
Deafness, Autosomal Recessive 30 (DFNB30) via the MYO3A Gene$640.00$690.00
Deafness, Autosomal Recessive 35 (DFNB35) via the ESRRB Gene$640.00$690.00
Deafness, Autosomal Recessive 39 (DFNB39) via the HGF Gene$640.00$690.00
Deafness, Autosomal Recessive 42 (DFNB42) via the ILDR1 Gene$640.00$690.00
Deafness, Autosomal Recessive 49 (DFNB49) via MARVELD2 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 6 (DFNB6) via TMIE Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 61 (DFNB61) via the SLC26A5 Gene$640.00$690.00
Deafness, Autosomal Recessive 63 (DFNB63) via the LRTOMT Gene$610.00$690.00
Deafness, Autosomal Recessive 67 (DFNB67) via the LHFPL5 Gene$490.00$690.00
Deafness, Autosomal Recessive 74 (DFNB74) via MSRB3 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 77 (DFNB77) via the LOXHD1 Gene$640.00$690.00
Deafness, Autosomal Recessive 8 (DFNB8) and Deafness, Autosomal Recessive 10 (DFNB10) via TMPRSS3 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 9 (DFNB9) via the OTOF Gene$640.00$690.00
Deafness, Autosomal Recessive 91 (DFNB91) via the SERPINB6 Gene$610.00$690.00
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia via the FGF3 Gene$490.00$690.00
Deafness, X-Linked 2 (DFNX2) via POU3F4 Gene Sequencing with CNV Detection$890.00
Deafness, X-Linked 4 (DFNX4) via the SMPX Gene$490.00$690.00
Deafness, X-linked 6 (DFNX6) via the COL4A6 Gene$640.00$690.00
Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A Gene$490.00$690.00
Dent Disease via the CLCN5 Gene$640.00
Dental Anomalies and Amelogenesis Imperfecta via the LTBP3 Gene$1560.00
Dentinogenesis Imperfecta (DGI) and Dentin Dysplasia (DD) via the DSPP Gene$680.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPL35A Gene Sequencing with CNV Detection$890.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS10 Gene Sequencing with CNV Detection$890.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS24 Gene Sequencing with CNV Detection$890.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS26 Gene Sequencing with CNV Detection$890.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS7 Gene Sequencing with CNV Detection$890.00
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL11 Gene$650.00
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL15 Gene$610.00
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL26 Gene$490.00
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL5 Gene$680.00
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPS17 Gene$540.00
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPS19 Gene$650.00
Diaphanospondylodysostosis via BMPER Gene Sequencing with CNV Detection$890.00
Dias-Logan Syndrome via BCL11A Gene Sequencing with CNV Detection$890.00
Diastrophic dysplasia (DTD) via the SLC26A2 Gene$650.00$690.00
Dihydrolipoamide Dehydrogenase Deficiency via the DLD Gene$640.00$690.00
Dihydropteridine Reductase (DHPR) Deficiency via QDPR Gene Sequencing with CNV Detection$890.00
Dihydropyrimidinase deficiency via DPYS Gene Sequencing with CNV Detection$890.00
Dihydropyrimidine Dehydrogenase Deficiency via the DPYD Gene$640.00$690.00
Dilated Cardiomyopathy and Limb-Girdle Muscular Dystrophy Type 2F via the SGCD Gene$650.00$690.00
Dilated Cardiomyopathy via ANKRD1 Gene Sequencing with CNV Detection$890.00
Dilated Cardiomyopathy via LAMA4 Gene Sequencing with CNV Detection$930.00
Distal Arthrogryposis 1B via the MYBPC1 Gene$640.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNI2 Gene$610.00$690.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNT3 Gene$640.00$690.00
Distal Arthrogryposis Type 7 (Trismus-Pseudocamptodactyly Syndrome) via the MYH8 Gene$1620.00
Distal Arthrogryposis, Autosomal Recessive, Type 5D (DA5D) via the ECEL1 Gene$640.00$690.00
Distal Arthrogryposis/Gordon Syndrome via the PIEZO2 Gene$640.00
Distal Hereditary Motor Neuropathy, Type 7A via the SLC5A7 Gene$640.00$690.00
Distal Myopathy 2 via MATR3 Gene Sequencing with CNV Detection$890.00
Distal Myopathy via the KLHL9 Gene$540.00
Distal Renal Tubular Acidosis, Autosomal Recessive, via the ATP6V0A4 Gene$640.00$690.00
Distal Renal tubular acidosis with sensorineural deafness via the ATP6V1B1 Gene$640.00$690.00
Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene$640.00$690.00
Duane Retraction Syndrome Type 2 via CHN1 Gene Sequencing with CNV Detection$890.00
Duane-Radial Ray Syndrome and Acro-Renal-Ocular Syndrome via SALL4 Gene Sequencing with CNV Detection$890.00
Dubin-Johnson Syndrome via ABCC2 Gene Sequencing with CNV Detection$890.00
Dynactin-Related Disorders via the DCTN1 Gene$640.00$690.00
Dynamin-2 Related Disorders via the DNM2 Gene$640.00$690.00
Dyskeratosis Congenita (DC) and Hoyeraal-Hreidarsson Syndrome via the DKC1 Gene$1020.00$690.00
Dyskeratosis Congenita (DC) and Revesz Syndrome via TINF2 Gene Sequencing with CNV Detection$890.00
Dyskeratosis Congenita (DC) via NOP10 Gene Sequencing with CNV Detection$890.00
Dyskeratosis Congenita (DC) via TERC Gene Sequencing with CNV Detection$890.00
Dyskeratosis Congenita (DC) via WRAP53 Gene Sequencing with CNV Detection$890.00
Dyskeratosis Congenita (DC) via the NHP2 Gene$520.00$690.00
Dyskeratosis Congenita (DC) via the TERT Gene$640.00$690.00
Dystroglycanopathies via POMK Gene Sequencing with CNV Detection$890.00
Dystroglycanopathy via DAG1 Gene Sequencing with CNV Detection$890.00
Dystroglycanopathy via GMPPB Gene Sequencing with CNV Detection$890.00
Dystroglycanopathy via the B3GALNT2 Gene$640.00$690.00
Dystroglycanopathy via the FKTN Gene$610.00$690.00
Dystroglycanopathy via the LARGE1/LARGE Gene$640.00$690.00
Dystrophic Epidermolysis Bullosa (DEB) via the COL7A1 Gene$3040.00$690.00
Dystrophinopathy via the DMD Gene$640.00$690.00
Early Infantile Epilepsies and Autism via the SCN2A Gene$640.00$690.00
Early Infantile Epileptic Encephalopathy 24 via HCN1 Gene Sequencing with CNV Detection$890.00
Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via the KCNQ2 Gene$640.00$690.00
Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene$640.00$690.00
Early Infantile Epileptic Encephalopathy or Kohlschütter-Tönz Syndrome via SLC13A5 Gene Sequencing with CNV Detection$890.00
Early Infantile Epileptic Encephalopathy via KCNA2 Gene Sequencing with CNV Detection$890.00
Early Infantile Epileptic Encephalopathy via SLC25A22 Gene Sequencing with CNV Detection$890.00
Early Infantile Epileptic Encephalopathy via the SCN8A Gene$640.00$690.00
Early Infantile Epileptic Encephalopathy-15 and Intellectual Disability via ST3GAL3 Gene Sequencing with CNV Detection$890.00
Early Infantile Epileptic encephalopathy-4/Ohtahara syndrome via the STXBP1 Gene$640.00$690.00
Early-Onset Ataxia with Oculomotor Apraxia Type 1 via the APTX Gene$640.00$690.00
Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) via the MEGF10 Gene$640.00$690.00
Ectodermal Dysplasia via NECTIN1 Gene Sequencing with CNV Detection$890.00
Ectodermal Dysplasia via WNT10A Gene Sequencing with CNV Detection$890.00
Ectodermal Dysplasia via the EDA Gene$780.00$690.00
Ectodermal Dysplasia via the EDAR Gene$640.00$690.00
Ectodermal Dysplasia via the EDARADD Gene$650.00$690.00
Ectodermal Dysplasia via the KRT85 Gene$640.00
Ectodermal Dysplasia/Skin Fragility Syndrome via PKP1 Gene Sequencing with CNV Detection$890.00
Ectodermal Dysplasia/Tooth Agenesis via MSX1 Gene Sequencing with CNV Detection$890.00
Ehlers-Danlos Syndrome with Progressive Kyphosis, Myopathy, and Hearing Loss (EDSKMH) via FKBP14 Gene Sequencing with CNV Detection$890.00
Ehlers-Danlos Syndrome, Classic Type via the COL5A1 Gene$640.00$690.00
Ehlers-Danlos Syndrome, Classic Type via the COL5A2 Gene$640.00$690.00
Ehlers-Danlos Syndrome, Kyphoscoliotic Form via the PLOD1 Gene$640.00$690.00
Ehlers-Danlos Syndrome, Type IV via the COL3A1 Gene$640.00$690.00
Ellis-van Creveld Syndrome via the EVC Gene$640.00$690.00
Ellis-van Creveld Syndrome via the EVC2 Gene$640.00$690.00
Emery-Dreifuss Muscular Dystrophy (EDMD1) via the EMD Gene$550.00$690.00
Epidermolysis Bullosa Simplex (EBS) via KRT14 Gene Sequencing with CNV Detection$890.00
Epidermolysis Bullosa Simplex (EBS) via KRT5 Gene Sequencing with CNV Detection$890.00
Epidermolysis Bullosa with Pyloric Atresia via ITGA6 Gene Sequencing with CNV Detection$890.00
Epidermolysis Bullosa with Pyloric Atresia via the ITGB4 Gene$640.00$690.00
Epidermolysis Bullosa with Pyloric Atresia via the PLEC Gene$2420.00$690.00
Epidermolytic Hyperkeratosis via KRT1 Gene Sequencing with CNV Detection$890.00
Epilepsy and Intellectual Disability in Females via the PCDH19 Gene$640.00$690.00
Epilepsy, X-linked, with Variable Learning Disabilities and Behavior Disorders via SYN1 Gene Sequencing with CNV Detection$890.00
Epilepsy: ALG13-Related Early Infantile Epileptic Encephalopathy via ALG13 Gene Sequencing with CNV Detection$890.00
Epilepsy: Benign Familial Neonatal Seizures Type 2 via the KCNQ3 Gene$640.00$690.00
Epilepsy: Early Infantile Epileptic Encephalopathy 27 via GRIN2B Gene Sequencing with CNV Detection$890.00
Epilepsy: Early Infantile Epileptic Encephalopathy via the ARHGEF9 Gene$640.00$690.00
Epilepsy: GNAO1-Related Early Infantile Epileptic Encephalopathy and Neurodevelopmental Disorder with Involuntary Movement via the GNAO1 Gene$640.00$690.00
Epilepsy: SCN3A-Related Epilepsy via SCN3A Gene Sequencing with CNV Detection$890.00
Epilepsy: Unverricht-Lundborg Disease via the CSTB Gene$490.00$690.00
Epileptic Encephalopathy and Intellectual Disability via the CHD2 Gene$640.00$690.00
Epilespy, Autosomal Dominant Lateral Temporal, via the LGI1 Gene$640.00$690.00
Epimerase Deficiency Galactosemia via GALE Gene Sequencing with CNV Detection$890.00
Episodic Ataxia Type 1 or Hypomagnesemia via the KCNA1 Gene$250.00$690.00
Erythropoietic Protoporphyria via FECH Gene Sequencing with CNV Detection$890.00
Ethylmalonic Encephalopathy via the ETHE1 Gene$810.00$690.00
FBXL4-Related Mitochondrial DNA Depletion Syndrome via FBXL4 Gene Sequencing with CNV Detection$890.00
FGFR1-Related Disorders via the FGFR1 Gene$640.00$690.00
FGFR2-Related Disorders via the FGFR2 Gene$640.00$690.00
FGFR3-Related Disorders via the FGFR3 Gene$970.00$690.00
FHL1-Myopathies via FHL1 Gene Sequencing with CNV Detection$890.00
FLNB-Related Disorders via the FLNB Gene$640.00$690.00
FOXC1-Related Disorders via the FOXC1 Gene$640.00$690.00
FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via the FRMD7 Gene$940.00$690.00
FTO-Deficiency Syndrome via FTO Gene Sequencing with CNV Detection$890.00
Fabry Disease via the GLA Gene$610.00$690.00
Facioscapulohumeral Muscular Dystrophy 2 via the SMCHD1 Gene$640.00$690.00
Factor V Deficiency via the F5 Gene$850.00$690.00
Factor VII Deficiency via F7 Gene Sequencing with CNV Detection$890.00
Factor X Deficiency via the F10 Gene$640.00$690.00
Familial Adenomatous Polyposis via APC Gene Sequencing with CNV Detection$540.00
Familial Amyloidosis (Finnish Type) via GSN Gene Sequencing with CNV Detection$890.00
Familial Amyloidosis via APOA1 Gene Sequencing with CNV Detection$890.00
Familial Amyloidosis via TTR Gene Sequencing with CNV Detection$890.00
Familial Cold Autoinflammatory Syndrome 2 via the NLRP12 Gene$640.00$690.00
Familial Dysautonomia via the ELP1/IKBKAP Gene - Full Gene Sequencing$640.00
Familial Dysautonomia via the ELP1/IKBKAP Gene - Targeted Variants Analysis$440.00
Familial Episodic Pain Type 2 Syndrome via the SCN10A Gene$640.00
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene$640.00
Familial Exudative Vitreoretinopathy 1 (FEVR1) via FZD4 Gene Sequencing with CNV Detection$890.00
Familial Exudative Vitreoretinopathy 5 (FEVR5) via TSPAN12 Gene Sequencing with CNV Detection$890.00
Familial Focal Epilepsy with Variable Foci via the DEPDC5 Gene$640.00
Familial Gastrointestinal Stromal Tumors (GISTs) via PDGFRA Gene Sequencing with CNV Detection$890.00
Familial Hemiplegic Migraine 1 (FHM1) via the CACNA1A Gene$890.00
Familial Hemiplegic Migraine 2 (FHM2) via the ATP1A2 Gene$640.00$690.00
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via SH2D1A Gene Sequencing with CNV Detection$890.00
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via the XIAP/BIRC4 Gene$650.00$690.00
Familial Hemophagocytic Lymphohistiocytosis-Type 2 (FHL2) via PRF1 Gene Sequencing with CNV Detection$890.00
Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3) via the UNC13D Gene$640.00$690.00
Familial Hemophagocytic Lymphohistiocytosis-Type 4 (FHL4) via the STX11 Gene$480.00$690.00
Familial Hemophagocytic Lymphohistiocytosis-Type 5 (FHL5) via the STXBP2 Gene$640.00$690.00
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene$640.00$690.00
Familial Hypercholesterolemia via the LDLR Gene$640.00$690.00
Familial Hypercholesterolemia via the PCSK9 Gene$940.00$690.00
Familial Hypocalciuric Hypercalcemia (FHH) via the AP2S1 Gene$650.00$690.00
Familial Isolated Hypoparathyroidism via the GCM2 Gene$640.00$690.00
Familial Isolated Hypoparathyroidism via the PTH Gene$370.00$690.00
Familial Isolated Pituitary Adenoma via AIP Gene Sequencing with CNV Detection$890.00
Familial Limb Girdle Myasthenia Syndrome via the DOK7 Gene$560.00$690.00
Familial Limb Girdle Myasthenic Syndrome With Tubular Aggregates via the DPAGT1 Gene$640.00$690.00
Familial Limb Girdle Myasthenic Syndrome via the AGRN Gene$640.00$690.00
Familial Lipoprotein Lipase Deficiency via the LPL Gene$750.00
Familial Mediterranean Fever (Renal Amyloidosis) via the MEFV Gene$910.00$690.00
Familial Meningioma via the SMARCE1 Gene$640.00$690.00
Familial Pityriasis Rubra Pilaris (PRP) via the CARD14 Gene$640.00$690.00
Familial Platelet Function Disorder via GP6 Gene Sequencing with CNV Detection$890.00
Fanconi Anemia via BRCA2/FANCD1 Gene Sequencing with CNV Detection$540.00
Fanconi Anemia via BRIP1/FANCJ Gene Sequencing with CNV Detection$540.00
Fanconi Anemia via PALB2/FANCN Gene Sequencing with CNV Detection$540.00
Fanconi Anemia via RAD51C/FANCO Gene Sequencing with CNV Detection$540.00
Fanconi Anemia via the FANCA Gene$640.00$690.00
Fanconi Anemia via the FANCC Gene$640.00$690.00
Fanconi Anemia via the FANCD2 Gene$960.00$690.00
Fanconi Anemia via the FANCE Gene$640.00$690.00
Fanconi Anemia via the FANCF Gene$490.00$690.00
Fanconi Anemia via the FANCG Gene$640.00$690.00
Fanconi Anemia via the FANCI Gene$640.00$690.00
Fanconi Anemia via the FANCL Gene$640.00$690.00
Fanconi Anemia via the FANCM Gene$640.00$690.00
Fanconi Anemia via the SLX4/FANCP Gene$640.00$690.00
Fanconi Anemia, X-linked, via the FANCB Gene$640.00$690.00
Fanconi-Bickel Syndrome via the SLC2A2 Gene$750.00$690.00
Farber Lipogranulomatosis via ASAH1 Gene Sequencing with CNV Detection$890.00
Fibrodysplasia Ossificans progressiva (FOP) via ACVR1 Gene Sequencing with CNV Detection$890.00
Fish-Eye Disease and Norum Disease via the LCAT Gene$650.00
Floating-Harbor Syndrome via the SRCAP Gene$640.00$690.00
Focal Dermal Hypoplasia (FDH) via PORCN Gene Sequencing with CNV Detection$890.00
Focal Epilepsy with Speech Disorder with or without Intellectual Disability via the GRIN2A Gene$640.00$690.00
Focal Segmental Glomerulosclerosis (FSGS) via the ACTN4 Gene$640.00$690.00
Focal Segmental Glomerulosclerosis (FSGS) via the ANLN Gene$640.00$690.00
Focal Segmental Glomerulosclerosis (FSGS) via the CD2AP Gene$640.00$690.00
Fragile X Syndrome via the FMR1 Gene$1130.00$690.00
French-Canadian type of Leigh syndrome via the LRPPRC Gene$1940.00$690.00
Frontonasal Dysplasia (Frontorhiny) via ALX3 Gene Sequencing with CNV Detection$890.00
Frontotemporal Dementia via the GRN Gene$640.00
Frontotemporal Dementia via the MAPT Gene$640.00
Fructose-1,6-Bisphosphatase Deficiency via the FBP1 Gene$610.00$690.00
Fukuyama Congenital Muscular Dystrophy via the FKTN Japanese Founder Mutation$250.00$690.00
Fundus Albipunctatus With or Without Cone Dystrophy via the RDH5 Gene$610.00$690.00
GALNT3-Related Disorders via the GALNT3 Gene$870.00
GAPO Syndrome via the ANTXR1 Gene$1100.00
GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via GATA2 Gene Sequencing with CNV Detection$890.00
GDF5-related Disorders via the GDF5 Gene$520.00$690.00
GLDC-Related Glycine Encephalopathy via the GLDC Gene$1250.00$690.00
GLE1-Related Disorders via the GLE1 Gene$640.00$690.00
GLI3-Related Disorders via GLI3 Gene Sequencing with CNV Detection$890.00
GLUD1-Related Congenital Hyperinsulinism via the GLUD1 Gene$990.00$690.00
GLUT1 Deficiency Syndrome via SLC2A1 Gene Sequencing with CNV Detection$890.00
GM1 Gangliodisosis and Mucopolysaccharidosis Type IVB / Morquio Type B via the GLB1 Gene$870.00$690.00
GM2-Gangliosidosis Variant AB via the GM2A Gene$370.00$690.00
GM3 Synthase Deficiency via The ST3GAL5 Gene$680.00$690.00
GNAS-Related Disorders via GNAS Gene Sequencing with CNV Detection$890.00
GNE Myopathy via the GNE Gene$640.00$690.00
GYG1-Related Disorders via GYG1 Gene Sequencing with CNV Detection$890.00
Galactosemia Type I via the GALT Gene$650.00$690.00
Galactosemia Type II via the GALK1 Gene$650.00$690.00
Galactosialidosis via CTSA Gene Sequencing with CNV Detection$890.00
Galloway-Mowat Syndrome via the WDR73 Gene$640.00
Gaucher Disease via the GBA Gene$850.00
Gelatinous Drop-Like Corneal Dystrophy (GDLD) via TACSTD2 Gene Sequencing with CNV Detection$890.00
Generalized Arterial Calcification of Infancy via ENPP1 Gene Sequencing with CNV Detection$890.00
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene$680.00$690.00
Geroderma Osteodysplasticum (GO) via the GORAB Gene$680.00$690.00
Giant Axonal Neuropathy via the GAN Gene$640.00$690.00
Gitelman Syndrome via the SLC12A3 Gene$640.00$690.00
Glanzmann's Thrombasthenia via the ITGA2B Gene$640.00$690.00
Glanzmann's Thrombasthenia via the ITGB3 Gene$640.00$690.00
Globozoospermia via SPATA16 Gene Sequencing with CNV Detection$890.00
Glucose Phosphate Isomerase Deficiency via GPI Gene Sequencing with CNV Detection$890.00
Glucose-6-Phosphate Dehydrogenase Deficiency via the G6PD Gene$810.00$690.00
Glutaric Acidemia Type I via the GCDH Gene$790.00$690.00
Glutaric Acidemia Type II via the ETFA Gene$640.00$690.00
Glutaric Acidemia Type II via the ETFB Gene$750.00$690.00
Glutaric Acidemia Type II via the ETFDH Gene$640.00$690.00
Glutathione Synthetase Deficiency via GSS Gene Sequencing with CNV Detection$890.00
Glycine Encephalopathy via the GCSH Gene$640.00
Glycine N-Methyltransferase Deficiency via the GNMT Gene$640.00
Glycogen Storage Disease Type 0 via the Glycogen Synthase 2 (GYS2) Gene$640.00$690.00
Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene$910.00$690.00
Glycogen Storage Disease Type III via the AGL Gene$640.00$690.00
Glycogen Storage Disease Type IV via the GBE1 Gene$640.00$690.00
Glycogen Storage Disease Type IX via the PHKA1 Gene$640.00$690.00
Glycogen Storage Disease Type IX via the PHKA2 Gene$640.00$690.00
Glycogen Storage Disease Type IX via the PHKB Gene$640.00$690.00
Glycogen Storage Disease Type IX via the PHKG2 Gene$610.00$690.00
Glycogen Storage Disease Type Ia via the G6PC Gene$590.00$690.00
Glycogen Storage Disease Type Ib via the SLC37A4 (G6PT1) Gene$670.00$690.00
Glycogen Storage Disease Type VI via the PYGL Gene$640.00$690.00
Glycogen Storage Disease Type VII (Tarui Disease) via the PFKM Gene$640.00$690.00
Glycogen Storage Disease Type X via the PGAM2 Gene$490.00
Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Sequential Test$890.00$690.00
Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Tier 1$370.00$690.00
Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Tier 2$830.00$690.00
Glycyl tRNA Synthetase-Related Disorders via the GARS Gene$640.00$690.00
Gnathodiaphyseal Dysplasia via the ANO5 Gene$1090.00$690.00
Goldberg-Shprintzen Megacolon Syndrome via KIAA1279 (KIF1BP) Gene Sequencing with CNV Detection$890.00
Gracile Syndrome via the BCS1L Gene$650.00
Gray Platelet Syndrome via the NBEAL2 Gene$640.00$690.00
Griscelli Syndrome-Type 2 (GS2) via RAB27A Gene Sequencing with CNV Detection$890.00
Gyrate Atrophy of Choroid and Retina via OAT Gene Sequencing with CNV Detection$890.00
HCFC1-Related Disorders via the HCFC1 Gene$640.00
HESX1-Related Disorders via HESX1 Gene Sequencing with CNV Detection$890.00
Heat Shock 22 kDa Protein-Related Disorders via the HSPB8 Gene$460.00$690.00
Heat Shock 27 kDa Protein-Related Disorders via the HSPB1 Gene$440.00$690.00
Helsmoortel-Van der Aa Syndrome via ADNP Gene Sequencing with CNV Detection$890.00
Hemiplegic Migraine and PRRT2-Related Disorders via PRRT2 Gene Sequencing with CNV Detection$890.00
Hemophilia A via the F8 Gene$640.00$690.00
Hemophilia B via the F9 Gene$750.00$690.00
Hemophilia C via the F11 Gene$640.00$690.00
Hennekam Lymphangiectasia-Lymphedema Syndrome via the CCBE1 Gene$640.00$690.00
Hereditary Angioedema via SERPING1 /C1NH Gene Sequencing with CNV Detection$890.00
Hereditary Breast Cancer via CHEK2 Gene Sequencing with CNV Detection$540.00
Hereditary Breast and Ovarian Cancer via BARD1 Gene Sequencing with CNV Detection$540.00
Hereditary Breast and Ovarian Cancer via RAD51D Gene Sequencing with CNV Detection$540.00
Hereditary Breast and Ovarian Cancer via the RAD50 Gene$640.00$690.00
Hereditary Coproporphyria via the CPOX Gene$640.00$690.00
Hereditary Diffuse Gastric Cancer via CDH1 Gene Sequencing with CNV Detection$540.00
Hereditary Folate Malabsorption via the SLC46A1 Gene$650.00
Hereditary Fructose Intolerance via the ALDOB Gene - Sequential Test$710.00
Hereditary Fructose Intolerance via the ALDOB Gene - Tier 1$370.00
Hereditary Fructose Intolerance via the ALDOB Gene - Tier 2$650.00
Hereditary Hemochromatosis via the HFE Gene$610.00$690.00
Hereditary Hemochromatosis via the SLC40A1 Gene$640.00$690.00
Hereditary Hemochromatosis via the TFR2 Gene$640.00
Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) / Osler-Weber-Rendu Disease via the ENG Gene$640.00$690.00
Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2) via the ACVRL1/ALK1 Gene$640.00$690.00
Hereditary Leiomyomatosis and Renal Cell Cancer or Fumarase Deficiency via the FH Gene$750.00$690.00
Hereditary Lymphedema via GJC2 Gene Sequencing with CNV Detection$890.00
Hereditary Mixed Polyposis Syndrome via the GREM1 Gene$490.00$690.00
Hereditary Motor and Sensory Neuropathy IIB (HMSN2B) via RAB7A Gene Sequencing with CNV Detection$890.00
Hereditary Multiple Osteochondromas (HMO) via EXT1 Gene Sequencing with CNV Detection$890.00
Hereditary Multiple Osteochondromas (HMO) via the EXT2 Gene$640.00$690.00
Hereditary Neuroblastoma via KIF1B Gene Sequencing with CNV Detection$890.00
Hereditary Neuroblastoma via the ALK Gene$640.00$690.00
Hereditary Neuroblastoma via the PHOX2B Gene$540.00$690.00
Hereditary Papillary Renal Cell Carcinoma via the MET Gene$640.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via SDHD Gene Sequencing with CNV Detection$890.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the MAX Gene$610.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHA Gene$1340.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHAF2 Gene$490.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHB Gene$640.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHC Gene$730.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the TMEM127 Gene$440.00$690.00
Hereditary Sensory Neuropathy Type IA via the SPTLC1 Gene$1130.00
Hereditary Sensory Neuropathy, Type IE via the DNMT1 Gene$640.00$690.00
Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) via the NGF Gene$490.00
Hereditary Sensory and Autonomic Neuropathy Type VIII via the PRDM12 Gene$680.00
Hereditary Spherocytosis Type 1 via the ANK1 Gene$640.00$690.00
Hereditary Spherocytosis via the EPB42 Gene$640.00$690.00
Hereditary Spherocytosis via the SLC4A1 Gene$640.00$690.00
Hereditary Spherocytosis/Elliptocytosis via the SPTA1 Gene$640.00$690.00
Hereditary Spherocytosis/Elliptocytosis via the SPTB Gene$640.00$690.00
Hereditary Thrombocythemia via the THPO Gene$650.00$690.00
Hereditary Thrombocytopenia and Hematologic Malignancy via the ETV6 Gene$640.00$690.00
Hereditary Xerocytosis via the PIEZO1 Gene$640.00
Hermansky-Pudlak Syndrome Type 1 (HPS1) via the HPS1 Gene$910.00$690.00
Hermansky-Pudlak Syndrome Type 2 (HPS2) via the AP3B1 Gene$640.00$690.00
Hermansky-Pudlak Syndrome Type 3 (HPS3) via the HPS3 Gene$640.00$690.00
Hermansky-Pudlak Syndrome Type 4 (HPS4) via the HPS4 Gene$640.00$690.00
Hermansky-Pudlak Syndrome Type 5 (HPS5) via the HPS5 Gene$640.00$690.00
Hermansky-Pudlak Syndrome Type 6 (HPS6) via the HPS6 Gene$680.00$690.00
Hermansky-Pudlak Syndrome Type 7 (HPS7) via the DTNBP1 Gene$640.00$690.00
Hermansky-Pudlak Syndrome Type 8 (HPS8) via the BLOC1S3 Gene$440.00$690.00
Hermansky-Pudlak Syndrome Type 9 (HPS9) via the BLOC1S6/PLDN Gene$610.00
Heterotaxy and Conotruncal Heart Defects via GDF1 Gene Sequencing with CNV Detection$890.00
Heterotaxy via the LEFTY2 Gene$490.00
Heterotaxy, Visceral 4 (HTX4) via the ACVR2B Gene$640.00$690.00
Heterotaxy, Visceral 5 (HTX5) via NODAL Gene Sequencing with CNV Detection$890.00
Hirschsprung Disease (HSCR) via the RET Gene$640.00$690.00
Hirschsprung Disease 2 (HSCR2) via the EDNRB Gene$680.00$690.00
Hirschsprung Disease 3 (HSCR3) via GDNF Gene Sequencing with CNV Detection$890.00
Hirschsprung Disease 4 (HSCR4) via the EDN3 Gene$580.00$690.00
Hirschsprung Disease via the NRTN Gene$490.00
Hirschsprung Disease, Cardiac Defects and Autonomic Dysfunction via the ECE1 Gene$640.00$690.00
Holoprosencephaly-11 via The CDON Gene$640.00$690.00
Holoprosencephaly-2 (Autosomal Dominant, Nonsyndromic) via SIX3 Gene Sequencing with CNV Detection$890.00
Holoprosencephaly-3 (Autosomal Dominant Nonsyndromic) via the SHH Gene$670.00$690.00
Holoprosencephaly-4 (Autosomal Dominant, Nonsyndromic) via the TGIF1 Gene$440.00$690.00
Holoprosencephaly-5 (Autosomal Dominant, Nonsyndromic) via the ZIC2 Gene$640.00$690.00
Holoprosencephaly-7 (Autosomal Dominant, Nonsyndromic) via the PTCH1 Gene$1130.00$690.00
Holoprosencephaly-9 (Autosomal Dominant, Nonsyndromic) via the GLI2 Gene$640.00$690.00
Holt-Oram Syndrome (HOS) via TBX5 Gene Sequencing with CNV Detection$890.00
Homocystinuria via the CBS Gene$640.00$690.00
Homocystinuria, cblE Type, via the MTRR Gene$640.00$690.00
Homocystinuria, cblG Type, via the MTR Gene$640.00$690.00
Hutchinson-Gilford Progeria Syndrome (HGPS) via the LMNA Gene$610.00$690.00
Hyaline Fibromatosis Syndrome via ANTXR2 Gene Sequencing with CNV Detection$890.00
Hydroxyprolinemia via the PRODH2 Gene$810.00
Hyper IgD Syndrome/Mevalonate Aciduria via the MVK Gene$640.00$690.00
Hyper IgM Syndrome via AICDA Gene Sequencing with CNV Detection$890.00
Hyperammonemia via the CPS1 Gene$640.00$690.00
Hyperammonemia via the NAGS Gene$650.00$690.00
Hyperammonemia via the OTC Gene$840.00$690.00
Hypercalcemic and Hypocalcemic Disorders via CASR Gene Sequencing with CNV Detection$890.00
Hypercalcemic and Hypocalcemic Disorders via the GNA11 Gene$640.00$690.00
Hypercalciuria via the ADCY10 Gene$640.00
Hyperglycemia and Hypoglycemia via GCK Gene Sequencing with CNV Detection$890.00
Hyperphenylalaninemia via the DNAJC12 Gene$650.00
Hyperphosphatasia with Intellectual Disability via PIGO Gene Sequencing with CNV Detection$890.00
Hypertension and Brachydactyly Syndrome via PDE3A Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via ACTN2 Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via CSRP3 Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via TPM1 Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the MYH6 Gene$640.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the PLN Gene$370.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the VCL Gene$640.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via TNNT2 Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy and Related Disorders via the ACTC1 Gene$610.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the TNNI3 Gene$650.00$690.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene$640.00$690.00
Hypertrophic Cardiomyopathy via MYBPC3 Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy via MYL2 Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy via the MYL3 Gene$540.00$690.00
Hypertrophic Cardiomyopathy via the TNNC1 Gene$540.00$690.00
Hypochondroplasia via the FGFR3 Gene$560.00$690.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome via PROK2 Gene Sequencing with CNV Detection$890.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome via the PROKR2 Gene$490.00$690.00
Hypomagnesemia via the FXYD2 Gene$440.00$690.00
Hypomyelination and Congenital Cataract (HCC) via the FAM126A Gene$640.00$690.00
Hypoparathyroidism, Sensorineural Deafness and Renal Disease (HDR) via GATA3 Gene Sequencing with CNV Detection$890.00
Hypophosphatasia via the ALPL Gene$870.00$690.00
Hypophosphatemia, X-Linked, via the PHEX Gene$1190.00
Hypophosphatemic Nephrolithiasis/Osteoporosis-2 (NPHLOP2) via the SLC9A3R1 Gene$650.00
Hypophosphatemic Rickets with Hypercalciuria via the SLC34A3 Gene$640.00
Hypothyroidism [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational & Nonautoimmune] via the TSHR Gene$640.00$690.00
IL-12 Receptor B1 Deficiency via IL12RB1 Gene Sequencing with CNV Detection$890.00
IRF6-Related Disorders via the IRF6 Gene$670.00$690.00
Ichthyosis Bullosa, Siemens via KRT2 Gene Sequencing with CNV Detection$890.00
Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome via MBTPS2 Gene Sequencing with CNV Detection$890.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the GNRH1 Gene$440.00$690.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the GNRHR Gene$490.00$690.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the KISS1 Gene$440.00$690.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the KISS1R Gene$610.00$690.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the TAC3 Gene$540.00$690.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the TACR3 Gene$650.00$690.00
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via FOXP3 Gene Sequencing with CNV Detection$890.00
Inclusion Body Myopathy and Autosomal Recessive, Early Onset Myopathy via the MYH2 Gene$1650.00$690.00
Increased Pain Sensitivity via the COMT Gene$610.00
Infantile Cerebellar-Retinal Degeneration the ACO2 Gene$640.00$690.00
Infantile Leukoencephalopathy Due to Mitochondrial Complex II Deficiency via the SDHAF1 Gene$370.00
Infantile Myofibromatosis and Idiopathic Basal Ganglia Calcification via the PDGFRB Gene$640.00
Integrin Alpha 7-Related Congenital Myopathy via the ITGA7 Gene$640.00$690.00
Intellectual Disability (Syndromic and Non-Syndromic) via the IQSEC2 Gene$1380.00$690.00
Intellectual Disability (Syndromic and Non-Syndromic) via the UPF3B Gene$810.00$690.00
Intellectual Disability via ADAT3 Gene Sequencing with CNV Detection$890.00
Intellectual Disability via CRBN Gene Sequencing with CNV Detection$890.00
Intellectual Disability via MYT1L Gene Sequencing with CNV Detection$890.00
Intellectual Disability via PIGG Gene Sequencing with CNV Detection$890.00
Intellectual Disability via TUSC3 Gene Sequencing with CNV Detection$890.00
Intellectual Disability via the ACSL4 Gene$910.00$690.00
Intellectual Disability via the PAK3 Gene$910.00$690.00
Intellectual Disability via the TECR Gene$610.00$690.00
Intellectual Disability, X-linked, Claes-Jensen Type via KDM5C Gene Sequencing with CNV Detection$890.00
Intrahepatic Cholestasis via the ABCB11 Gene$640.00$690.00
Intrahepatic Cholestasis via the ABCB4 Gene$640.00$690.00
Intrahepatic Cholestasis via the ATP8B1 Gene$640.00$690.00
Iron-Refractory Iron Deficiency Anemia (IRIDA) via TMPRSS6 Gene Sequencing with CNV Detection$890.00
Isolated Foveal Hypoplasia Type 2 (FVH2) via SLC38A8 Gene Sequencing with CNV Detection$890.00
Isolated Nonsyndromic Congenital Heart Defects via ZFPM2 (FOG2) Gene Sequencing with CNV Detection$890.00
Isolated Nonsyndromic Congenital Heart Defects via the GATA4 Gene$650.00$690.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$690.00
Isolated Polycystic Liver Disease (PCLD) via the PRKCSH Gene$640.00$690.00
Isolated Polycystic Liver Disease (PCLD) via the SEC63 Gene$640.00$690.00
Isovaleric Acidemia via the IVD Gene$840.00$690.00
Johanson-Blizzard Syndrome via the UBR1 Gene$640.00$690.00
Joubert Syndrome via the AHI1 Gene$640.00$690.00
Joubert Syndrome via the ARL13B Gene$640.00$690.00
Joubert Syndrome via the C5orf42 Gene$640.00$690.00
Joubert Syndrome via the INPP5E Gene$640.00$690.00
Joubert Syndrome via the TMEM138 Gene$540.00$690.00
Joubert Syndrome via the TMEM216 Gene$560.00$690.00
Joubert Syndrome via the TMEM237 Gene$640.00$690.00
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene$640.00$690.00
Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene$640.00$690.00
Joubert and Meckel-Gruber Syndromes via the CEP290 Gene$640.00$690.00
Joubert and Meckel-Gruber Syndromes via the RPGRIP1L Gene$640.00$690.00
Junctional Epidermolysis Bullosa via COL17A1 Gene Sequencing with CNV Detection$890.00
Junctional Epidermolysis Bullosa via the LAMA3 Gene$1690.00$690.00
Junctional Epidermolysis Bullosa via the LAMB3 Gene$1230.00$690.00
Junctional Epidermolysis Bullosa via the LAMC2 Gene$1220.00$690.00
Juvenile Hereditary Hemochromatosis via the HAMP Gene$440.00
Juvenile Hereditary Hemochromatosis via the HFE2 (HJV) Gene$650.00
Juvenile Myoclonic Epilepsy via the GABRA1 Gene$640.00$690.00
Juvenile Paget Disease via TNFRSF11B Gene Sequencing with CNV Detection$890.00
Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT) via SMAD4 Gene Sequencing with CNV Detection$540.00
Juvenile Polyposis Syndrome (JPS) via BMPR1A Gene Sequencing with CNV Detection$540.00
KARS-Related Disorders via the KARS Gene$640.00$690.00
KAT6B-Related Disorders via the KAT6B Gene$640.00$690.00
KCNJ11-Related Congenital Hyperinsulinism via the KCNJ11 Gene$540.00$690.00
KLICK Syndrome via POMP Gene Sequencing with CNV Detection$890.00
KRAS-Related Disorders via the KRAS Gene$490.00$690.00
Kabuki Syndrome via the KDM6A Gene$640.00$690.00
Kabuki Syndrome via the KMT2D Gene$680.00$690.00
Kallmann Syndrome via the KAL1(ANOS1) Gene$640.00$690.00
Karyomegalic Tubulointerstitial Nephritis (KTN) via FAN1 Gene Sequencing with CNV Detection$890.00
Kenny-Caffey Syndrome Type 1 via the TBCE Gene$640.00$690.00
Kenny-Caffey Syndrome Type 2 via FAM111A Gene Sequencing with CNV Detection$890.00
Keratoconus and Posterior Polymorphous Corneal Dystrophy via the VSX1 Gene$650.00$690.00
Kindler Syndrome via FERMT1 Gene Sequencing with CNV Detection$890.00
Kleefstra Syndrome via the EHMT1 Gene$1340.00$690.00
Klippel-Feil Syndrome via the GDF6 Gene$490.00$690.00
Klippel-Feil Syndrome via the MEOX1 Gene$610.00
Knobloch Syndrome, Type I via COL18A1 Gene Sequencing with CNV Detection$890.00
Kohlschutter-Tonz syndrome (KTS) via the ROGDI Gene$640.00$690.00
Krabbe Disease via the GALC Gene$910.00$690.00
L-2-Hydroxyglutaric Aciduria Type I via L2HGDH Gene Sequencing with CNV Detection$890.00
L1 Syndrome via the L1CAM Gene$1220.00$690.00
LAS1L-Related Disorders via LAS1L Gene Sequencing with CNV Detection$890.00
LHCGR-related Disorders via the LHCGR Gene$990.00$690.00
LIG4 Syndrome via LIG4 Gene Sequencing with CNV Detection$890.00
Lafora Disease via EPM2A Gene Sequencing with CNV Detection$890.00
Lafora Disease via the NHLRC1 Gene$540.00$690.00
Laminopathies via the LMNA Gene$610.00$690.00
Laron Syndrome / Pituitary Dwarfism II (Growth Hormone Insensitivity) via the GHR Gene$840.00$690.00
Leber Congenital Amaurosis 1 (LCA1) and Cone-Rod dystrophy 6 (CORD6) via the GUCY2D Gene$640.00$690.00
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene$640.00$690.00
Leber Congenital Amaurosis 13 (LCA13), Retinitis Pigmentosa 53 (RP53) and Early Onset Cone-Rod Dystrophy (CORD) via the RDH12 Gene$610.00$690.00
Leber Congenital Amaurosis 4 (LCA4) via AIPL1 Gene Sequencing with CNV Detection$890.00
Leber Congenital Amaurosis and Retinitis Pigmentosa via the CRB1 Gene$640.00$690.00
Leber Congenital Amaurosis via the CRX Gene$490.00$690.00
Leber congenital amaurosis 14 (LCA14) or Early Onset Retinal Dystrophy (EORD) and Juvenile Retinitis pigmentosa via the LRAT Gene$440.00$690.00
Left Ventricular Noncompaction (LVNC) via DTNA Gene Sequencing with CNV Detection$890.00
Legius Syndrome via the SPRED1 Gene$650.00$690.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via NDUFAF2 Gene Sequencing with CNV Detection$890.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFS1 Gene$640.00$690.00
Leigh Syndrome Associated with Isolated Complex I Deficiency via the NDUFA12 Gene$610.00
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via NDUFA9 Gene Sequencing with CNV Detection$890.00
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via NDUFS7 Gene Sequencing with CNV Detection$890.00
Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene$640.00$690.00
Leukocyte Adhesion Deficiency Type 2 (LADII) via the SLC35C1 Gene$490.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B2 Gene Sequencing with CNV Detection$890.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B5 Gene Sequencing with CNV Detection$890.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B1 Gene$650.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B3 Gene$640.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B4 Gene$640.00$690.00
Li-Fraumeni Syndrome via TP53 Gene Sequencing with CNV Detection$540.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene$640.00$690.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene$640.00$690.00
Limb Girdle Muscular Dystrophy Type 1F via the TNPO3 Gene$640.00$690.00
Limb Girdle Muscular Dystrophy Type 1G via HNRNPDL Gene Sequencing with CNV Detection$890.00
Limb Girdle Muscular Dystrophy Type 2A via the CAPN3 Gene$640.00$690.00
Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy via the DYSF Gene$640.00$690.00
Limb Girdle Muscular Dystrophy Type 2I via the FKRP Gene$400.00$690.00
Limb Girdle Muscular Dystrophy Type 2S (LGMD2S) via the TRAPPC11 Gene$640.00$690.00
Limb Girdle Muscular Dystrophy Type 2W (LGMD2W) via The LIMS2 Gene$680.00$690.00
Limb Girdle Muscular Dystrophy Type 2Y via TOR1AIP1 Gene Sequencing with CNV Detection$890.00
Limb Girdle Muscular Dystrophy, Type 2C (LGMD2C) via the SGCG Gene$610.00$690.00
Limb Girdle Muscular Dystrophy, Type 2D (LGMD2D) via the SGCA Gene$560.00$690.00
Limb Girdle Muscular Dystrophy, Type 2E (LGMD2E) via the SGCB Gene$460.00$690.00
Limb Girdle Muscular Dystrophy, Type 2J and Tibial Muscular Dystrophy via the TTN Gene (exons 307 - 312)$1220.00$690.00
Limb Girdle Muscular Dystrophy, Type 2L (LGMD2L) and Distal Miyoshi Myopathy (MMD3) via the ANO5 Gene$1090.00$690.00
Lipodystrophy and Heritable Pulmonary Arterial Hypertension via CAV1 Gene Sequencing with CNV Detection$890.00
Lissencephaly 3 via the TUBA1A Gene$490.00$690.00
Lissencephaly with Cerebellar Hypoplasia via the RELN Gene$640.00$690.00
Loeys-Dietz Syndrome 4 via TGFB2 Gene Sequencing with CNV Detection$890.00
Loeys-Dietz Syndrome via the TGFBR1 Gene$640.00$690.00
Loeys-Dietz Syndrome via the TGFBR2 Gene$640.00$690.00
Long QT Syndrome and Jervell and Lange-Nielsen Syndrome via the KCNE1 Gene$440.00$690.00
Long QT Syndrome and Jervell and Lange-Nielsen syndrome via the KCNQ1 Gene$640.00$690.00
Long QT Syndrome via KCNJ5 Gene Sequencing with CNV Detection$890.00
Long QT Syndrome via SCN4B Gene Sequencing with CNV Detection$890.00
Long QT Syndrome via the AKAP9 Gene$640.00$690.00
Long QT Syndrome via the ANK2 Gene$640.00$690.00
Long QT Syndrome via the KCNE2 Gene$370.00$690.00
Long QT Syndrome via the KCNH2 Gene$640.00$690.00
Long QT syndrome via the SNTA1 Gene$710.00$690.00
Lujan Syndrome, FG Syndrome Type 1 and Ohdo Syndrome via MED12 Gene Sequencing with CNV Detection$890.00
Lung Cancer Susceptibility via the EGFR Gene$640.00$690.00
Lymphedema with Hypotrichosis and Telangiectasia via SOX18 Gene Sequencing with CNV Detection$890.00
Lymphedema-Distichiasis Syndrome via FOXC2 Gene Sequencing with CNV Detection$890.00
Lynch Syndrome via EPCAM Gene Sequencing with CNV Detection$540.00
Lynch Syndrome via MLH1 Gene Sequencing with CNV Detection$540.00
Lynch Syndrome via MLH3 Gene Sequencing with CNV Detection$890.00
Lynch Syndrome via MSH2 Gene Sequencing with CNV Detection$540.00
Lynch Syndrome via MSH6 Gene Sequencing with CNV Detection$540.00
Lynch Syndrome via PMS2 Gene Sequencing with CNV Detection$540.00
MFN2-Related Disorders via the MFN2 Gene$640.00$690.00
MFRP-Related Oculopathy via the MFRP Gene$640.00$690.00
MGME1-Related Mitochondrial DNA Depletion Syndrome via MGME1 Gene Sequencing with CNV Detection$890.00
MPV17-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the MPV17 Gene$540.00$690.00
MPZ-Related Neuropathies$650.00$690.00
MRPL3-Related Combined Oxidative Phosphorylation Deficiency via MRPL3 Gene Sequencing with CNV Detection$890.00
MUTYH Associated Polyposis (MAP) Syndrome via MUTYH Gene Sequencing with CNV Detection$540.00
MYH3-Related Distal Arthrogryposis via the MYH3 Gene$640.00$690.00
MYH9-Related Disorders via the MYH9 Gene$640.00$690.00
Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via RIN2 Gene Sequencing with CNV Detection$890.00
Macular Corneal Dystrophy (MCD) via the CHST6 Gene$370.00$690.00
Majeed Syndrome via the LPIN2 Gene$640.00$690.00
Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via EFEMP1 Gene Sequencing with CNV Detection$890.00
Male Infertility via the CATSPER1 Gene$1060.00$690.00
Male Infertility with Globozoospermia via PICK1 Gene Sequencing with CNV Detection$890.00
Male Infertility with Large-headed Spermatozoa via the AURKC Gene$650.00$690.00
Male and Female Infertility via the FSHB Gene$370.00$690.00
Malignant Migrating Partial Seizures of Infancy and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the KCNT1 Gene$640.00$690.00
Malonyl-CoA Decarboxylase Deficiency via MLYCD Gene Sequencing with CNV Detection$890.00
Mandibulofacial Dysostosis, Guion-Almeida Type via the EFTUD2 Gene$640.00
Maple Syrup Urine Disease Type IA via the BCKDHA Gene$640.00$690.00
Maple Syrup Urine Disease Type IB via the BCKDHB Gene$640.00$690.00
Maple Syrup Urine Disease Type II via the DBT Gene$640.00$690.00
Marfan Syndrome via the FBN1 Gene$640.00$690.00
Marinesco-Sjogren Syndrome via the SIL1 Gene$640.00$690.00
Maturity Onset Diabetes of Young (MODY) via KLF11 Gene Sequencing with CNV Detection$890.00
Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the INS Gene$440.00$690.00
Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the NEUROD1 Gene$540.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the BLK Gene$640.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the HNF1A Gene$640.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the HNF4A Gene$640.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the PAX4 Gene$640.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the PDX1 Gene$490.00$690.00
McLeod Syndrome via XK Gene Sequencing with CNV Detection$890.00
Meckel-Gruber Syndrome / Joubert Syndrome via the TCTN2 Gene$640.00$690.00
Meckel-Gruber Syndrome via the MKS1 Gene$640.00$690.00
Meckel-Gruber syndrome via B9D1 Gene Sequencing with CNV Detection$890.00
Medium Chain Acyl-CoA Dehydrogenase Deficiency via the ACADM Gene$750.00$690.00
Medullary Cystic Kidney Disease type 2 and Familial Juvenile Hyperuricemic Nephropathy type 1 via UMOD Gene Sequencing with CNV Detection$890.00
Medulloblastoma and Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via SUFU Gene Sequencing with CNV Detection$890.00
Meesmann Corneal Dystrophy (MCD) via KRT12 Gene Sequencing with CNV Detection$890.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts via the HEPACAM Gene$650.00$690.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts via the MLC1 Gene$640.00$690.00
Meier-Gorlin Syndrome via ORC4 Gene Sequencing with CNV Detection$890.00
Meier-Gorlin Syndrome via the CDC6 Gene$640.00$690.00
Meier-Gorlin Syndrome via the CDT1 Gene$640.00$690.00
Meier-Gorlin Syndrome via the ORC1 Gene$640.00$690.00
Meier-Gorlin Syndrome via the ORC6 Gene$650.00$690.00
Melanoma Predisposition via CDK4 Gene Sequencing with CNV Detection$540.00
Melanoma Predisposition via CDKN2A Gene Sequencing with CNV Detection$540.00
Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene$710.00$690.00
Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance via the OPHN1 Gene$1190.00$690.00
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene$640.00$690.00
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene (Mexican Exon 55 Mutation)$250.00$690.00
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction (MSSD) via BHLHA9 Gene Sequencing with CNV Detection$890.00
Metachromatic Leukodystrophy via the ARSA Gene$580.00$690.00
Metachromatic Leukodystrophy via the PSAP Gene$640.00$690.00
Metaphyseal Chondrodysplasia, Schmid Type (MCDS) via COL10A1 Gene Sequencing with CNV Detection$890.00
Methionine Adenosyltransferase I/III Deficiency via MAT1A Gene Sequencing with CNV Detection$890.00
Methlymalonyl-CoA Epimerase Deficiency via the MCEE Gene$540.00
Methylmalonic Acidemia via the MUT Gene$780.00$690.00
Methylmalonic Acidemia, cblA type, via the MMAA Gene$580.00$690.00
Methylmalonic Acidemia, cblB type, via the MMAB Gene$650.00$690.00
Methylmalonic Aciduria and Homocystinuria, cblC type, via the MMACHC Gene$540.00$690.00
Methylmalonic Aciduria and Homocystinuria, cblD type, via the MMADHC Gene$650.00$690.00
Methylmalonic Aciduria and Homocystinuria, cblF type, via the LMBRD1 Gene$640.00$690.00
Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene$640.00
Methylmalonic Aciduria and/or Homocystinuria via CD320 Gene Sequencing with CNV Detection$890.00
Microcephaly, Lymphedema, and Chorioretinal Dysplasia (MLCRD) / Chorioretinal Dysplasia, Microcephaly, and Mental Retardation (CDMMR) / Familial Exudative Vitreoretinopathy (FEVR) via the KIF11 Gene$640.00$690.00
Microcephaly, Seizures and Developmental Delay via PNKP Gene Sequencing with CNV Detection$890.00
Microform Holoprosencephaly (HPE10) via the DISP1 Gene$640.00$690.00
Microphthalmia and Anophthalmia via the RAX Gene$540.00
Miller Syndrome via the DHODH Gene$640.00
Miller-Dieker Lissencephaly Syndrome via YWHAE Gene Sequencing with CNV Detection$890.00
Milroy Disease (Lymphedema Type I) via the FLT4 Gene$640.00$690.00
Mitochondrial Combined Oxidative Phosphorylation Deficiency via the MTFMT Gene$810.00
Mitochondrial Complex I Deficiency via NDUFA11 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NDUFAF1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NDUFB9 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NDUFS6 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NDUFV1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NDUFV2 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NUBPL Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via the NDUFA1 Gene$490.00
Mitochondrial Complex I Deficiency via the NDUFAF4 Gene$540.00
Mitochondrial Complex I Deficiency via the NDUFB3 Gene$490.00
Mitochondrial Complex I Deficiency via the NDUFS4 Gene$650.00
Mitochondrial Complex III Deficiency via CYC1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex III Deficiency via LYRM7 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex III Deficiency via UQCC2 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex III Deficiency via UQCRB Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex III Deficiency via UQCRC2 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex III Deficiency via the TTC19 Gene$870.00
Mitochondrial Complex III Deficiency via the UQCC3 Gene$440.00
Mitochondrial Complex III Deficiency via the UQCRQ Gene$440.00
Mitochondrial Complex IV Deficiency via APOPT1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex IV Deficiency via COX20 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex IV Deficiency via SCO1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex IV Deficiency via the COA3 Gene$440.00
Mitochondrial Complex IV Deficiency via the COA5 Gene$540.00
Mitochondrial Complex IV Deficiency via the COX14 Gene$370.00
Mitochondrial Complex IV Deficiency via the COX6B1 Gene$540.00
Mitochondrial Complex IV Deficiency via the PET100 Gene$540.00
Mitochondrial Complex IV Deficiency via the SCO2 Gene$540.00
Mitochondrial Complex V Deficiency via ATP5A1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex V Deficiency via ATPAF2 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex V Deficiency via TMEM70 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex V Deficiency via the ATP5E Gene$440.00
Mitochondrial Membrane Protein-Associated Neurodegeneration via the C19orf12 Gene$490.00
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease via the TYMP Gene$640.00$690.00
Mitochondrial Phosphate Carrier Deficiency via SLC25A3 Gene Sequencing with CNV Detection$890.00
Mitochondrial Phosphoenolpyruvate Carboxykinase 2 Deficiency via PCK2 Gene Sequencing with CNV Detection$890.00
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency via the HADHA Gene$640.00$690.00
Molybdenum Cofactor Deficiency Type A via MOCS1 Gene Sequencing with CNV Detection$890.00
Molybdenum Cofactor Deficiency Type B via MOCS2 Gene Sequencing with CNV Detection$890.00
Molybdenum Cofactor Deficiency via GPHN Gene Sequencing with CNV Detection$890.00
Monogenic Obesity via MC4R Gene Sequencing with CNV Detection$890.00
Mosaic Variegated Aneuploidy Syndrome via CEP57 Gene Sequencing with CNV Detection$890.00
Mosaic Variegated Aneuploidy Syndrome via the BUB1B Gene$640.00$690.00
Mowat-Wilson Syndrome via ZEB2 Gene Sequencing with CNV Detection$890.00
Mucolipidosis Type IV via the MCOLN1 Gene$940.00
Mucolipidosis and Stuttering via the GNPTAB Gene$640.00$690.00
Mucolipidosis and Stuttering via the GNPTG Gene$540.00$690.00
Mucopolysaccharidosis Type I via the IDUA Gene$870.00$690.00
Mucopolysaccharidosis Type II via the IDS Gene$710.00
Mucopolysaccharidosis Type IIIA / Sanfilippo Syndrome A via the SGSH Gene$690.00$690.00
Mucopolysaccharidosis Type IIIB / Sanfilippo Syndrome B via the NAGLU Gene$780.00$690.00
Mucopolysaccharidosis Type IIIC / Sanfilippo Syndrome C via the HGSNAT Gene$640.00$690.00
Mucopolysaccharidosis Type IIID / Sanfilippo Syndrome D via the GNS Gene$640.00$690.00
Mucopolysaccharidosis Type IVA / Morquio Type A Disease via GALNS Gene Sequencing with CNV Detection$890.00
Mucopolysaccharidosis Type IX via HYAL1 Gene Sequencing with CNV Detection$890.00
Mucopolysaccharidosis Type VI / Maroteaux-Lamy Syndrome via the ARSB Gene$680.00$690.00
Mucopolysaccharidosis Type VII / Sly Syndrome via the GUSB Gene$780.00$690.00
Multiple Carboxylase Deficiency (Early Onset) via the HLCS Gene$710.00$690.00
Multiple Carboxylase Deficiency (Juvenile Onset) via the BTD Gene$580.00$690.00
Multiple Endocrine Neoplasia Type 1 via MEN1 Gene Sequencing with CNV Detection$540.00
Multiple Endocrine Neoplasia Type 2A (MEN2A) and Familial Medullary Thyroid Carcinoma (FMTC) via the RET Gene - Tier 1$590.00$690.00
Multiple Endocrine Neoplasia Type 2A (MEN2A) and Familial Medullary Thyroid Carcinoma (FMTC) via the RET Gene - Tier 2$960.00$690.00
Multiple Endocrine Neoplasia Type 2B (MEN2B) via the RET Gene, Exons 15-16$370.00$690.00
Multiple Endocrine Neoplasia Type 4 via the CDKN1B Gene$440.00$690.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene$640.00$690.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive, via the COL9A2 Gene$640.00$690.00
Multiple Epiphyseal Dysplasia via the COL9A3 Gene$640.00$690.00
Multiple Epiphyseal Dysplasia via the MATN3 Gene$640.00$690.00
Multiple Epiphyseal Dysplasia, Recessive (EDM4/rMED) via the SLC26A2 Gene$650.00$690.00
Multiple Pterygium Syndrome via the CHRNG Gene$640.00$690.00
Multiple Sulfatase Deficiency / Mucosulfatidosis via the SUMF1 Gene$680.00$690.00
Myoclonus-Dystonia Syndrome via SGCE Gene Sequencing with CNV Detection$890.00
Myofibrillar Myopathy via DES Gene Sequencing with CNV Detection$890.00
Myofibrillar Myopathy via the CRYAB Gene$440.00$690.00
Myofibrillar Myopathy via the FLNC Gene$640.00$690.00
Myofibrillar Myopathy via the LDB3 (ZASP) Gene$640.00$690.00
Myofibrillar Myopathy, Childhood Onset via BAG3 Gene Sequencing with CNV Detection$890.00
Myopathy with Lactic Acidosis via ISCU Gene Sequencing with CNV Detection$890.00
Myopathy, Congenital via TPM3 Gene Sequencing with CNV Detection$890.00
Myotilinopathy via MYOT Gene Sequencing with CNV Detection$890.00
Myotonia Congenita via the CLCN1 Gene$640.00
NDP-Related Vitreoretinopathies via the NDP Gene$440.00$690.00
NDUFA2-Related Leigh Syndrome (LS) via the NDUFA2 Gene$490.00
NDUFAF6-Related Leigh Syndrome (LS) via the NDUFAF6 Gene$810.00
NOTCH2-Related Disorders via the NOTCH2 Gene$640.00$690.00
NR0B1-Related Disorders via the NR0B1 Gene$540.00$690.00
NR5A1-Related Disorders via the NR5A1 Gene$650.00$690.00
NSDHL-Related Disorders via NSDHL Gene Sequencing with CNV Detection$890.00
Nail-Patella Syndrome via LMX1B Gene Sequencing with CNV Detection$890.00
Naxos Disease and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the JUP Gene$640.00$690.00
Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene$1590.00$690.00
Nemaline Myopathy 5 (Amish Nemaline Myopathy) via the TNNT1 Gene$640.00$690.00
Nemaline Myopathy 7 via the CFL2 Gene$540.00$690.00
Nemaline Myopathy 9 via the KLHL41 Gene$640.00$690.00
Nemaline Myopathy NEB Triplicate Repeat Region, Exons 82-105$1440.00
Nemaline Myopathy With Cores (NEM6) via KBTBD13 Gene Sequencing with CNV Detection$890.00
Nemaline Myopathy via the KLHL40 Gene$640.00$690.00
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via AVPR2 Gene Sequencing with CNV Detection$890.00
Nephrogenic Diabetes Insipidus (NDI) via the AQP2 Gene$540.00$690.00
Nephrolithiasis via SLC26A1 Gene Sequencing with CNV Detection$890.00
Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 Gene$640.00$690.00
Nephronophthisis and Joubert Syndrome via the NPHP1 Gene$640.00$690.00
Nephronophthisis and Senior-Loken Syndrome via the IQCB1/NPHP5 Gene$790.00$690.00
Nephronophthisis and Senior-Loken syndrome via the NPHP3 Gene$640.00$690.00
Nephronophthisis and Situs Inversus via the ANKS6 Gene$640.00
Nephronophthisis via GLIS2/NPHP7 Gene Sequencing with CNV Detection$890.00
Nephronophthisis via NEK8/NPHP9 Gene Sequencing with CNV Detection$890.00
Nephronophthisis via the INVS / NPHP2 Gene$640.00$690.00
Nephronophthisis via the NPHP4 Gene$640.00$690.00
Nephronophthisis-Like Nephropathy-1 (NPHPL1) via XPNPEP3 Gene Sequencing with CNV Detection$890.00
Nephrotic Syndrome or Palmoplantar Keratoderma and Woolly Hair via the KANK2 Gene$640.00
Nephrotic Syndrome via EMP2 Gene Sequencing with CNV Detection$890.00
Nephrotic Syndrome via KANK4 Gene Sequencing with CNV Detection$890.00
Netherton Syndrome via the SPINK5 Gene$640.00$690.00
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene$640.00$540.00
Neurofibromatosis Type 2 via NF2 Gene Sequencing with CNV Detection$890.00
Neurohypophyseal Diabetes Insipidus (NDI) via AVP Gene Sequencing with CNV Detection$890.00
Neuronal Ceroid Lipofuscinosis 1 via the PPT1 Gene$640.00$690.00
Neuronal Ceroid Lipofuscinosis 10 via the CTSD Gene$710.00$690.00
Neuronal Ceroid Lipofuscinosis 12 via the ATP13A2 Gene$640.00
Neuronal Ceroid Lipofuscinosis 13 via CTSF Gene Sequencing with CNV Detection$890.00
Neuronal Ceroid Lipofuscinosis 14 via the KCTD7 Gene$650.00$690.00
Neuronal Ceroid Lipofuscinosis 2 via the TPP1 Gene$640.00$690.00
Neuronal Ceroid Lipofuscinosis 3 via the CLN3 Gene$640.00$690.00
Neuronal Ceroid Lipofuscinosis 5 via the CLN5 Gene$580.00$690.00
Neuronal Ceroid Lipofuscinosis 6 via the CLN6 Gene$640.00$690.00
Neuronal Ceroid Lipofuscinosis 7 via the MFSD8 Gene$640.00$690.00
Neuronal Ceroid Lipofuscinosis 8 via the CLN8 Gene$580.00$690.00
Neutral Lipid Storage Disease with Myopathy via the PNPLA2 Gene$640.00$690.00
Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via the PTCH1 Gene$1130.00$690.00
Niemann-Pick Disease Type C via the NPC1 Gene$640.00$690.00
Niemann-Pick Disease Type C via the NPC2 Gene$540.00$690.00
Niemann-Pick Disease Types A and B via the SMPD1 Gene$750.00$690.00
Nijmegen Breakage Syndrome via NBN Gene Sequencing with CNV Detection$540.00
Non-Syndromic Monogenic Obesity via the LEP Gene$490.00$690.00
Non-Syndromic Monogenic Obesity via the LEPR Gene$640.00$690.00
Non-syndromic Autosomal Recessive Intellectual Diasbility via TRAPPC9 Gene Sequencing with CNV Detection$890.00
Noonan Syndrome via RIT1 Gene Sequencing with CNV Detection$890.00
Noonan Syndrome via the LZTR1 Gene$640.00
Noonan Syndrome via the NRAS Gene$490.00$690.00
Noonan Syndrome via the SOS1 Gene$640.00$690.00
Noonan Syndrome via the SOS2 Gene$640.00
Noonan-Like Syndrome with Loose Anagen Hair via the SHOC2 Gene$640.00$690.00
OFD1-Related Disorders via the OFD1 Gene$640.00$690.00
Ocular Albinism (OA1) via the GPR143 Gene$640.00
OculoDentoDigital Dysplasia (ODDD) via the GJA1 Gene$250.00$690.00
Oculocerebrorenal Syndrome of Lowe (Lowe syndrome) and Dent Disease - 2 via the OCRL Gene$640.00$690.00
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene$680.00$690.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Gene$640.00$690.00
Oculocutaneous Albinism Type 3 (OCAIII) via the TYRP1 Gene$640.00
Oculocutaneous Albinism Type 4 (OCAIV) via the SLC45A2 Gene$640.00
Oculocutaneous Albinism Type 6 (OCAVI) via SLC24A5 Gene Sequencing with CNV Detection$890.00
Oculocutaneous Albinism Type 7 (OCAVII) via C10orf11 Gene Sequencing with CNV Detection$890.00
Oculofaciocardiodental Syndrome and Lenz Microphthalmia Syndrome via the BCOR Gene$640.00$690.00
Oguchi Disease and Retinitis Pigmentosa (RP47) via SAG Gene Sequencing with CNV Detection$890.00
Oligodontia-Colorectal Cancer via AXIN2 Gene Sequencing with CNV Detection$890.00
Oocyte Maturation Defect (OOMD) via ZP1 Gene Sequencing with CNV Detection$890.00
Opitz G/BBB Syndrome Type 1 via the MID1 Gene$870.00$690.00
Optic Atrophy 7 (OPA7) via the TMEM126A Gene$540.00$690.00
Optic Atrophy and Hereditary Spastic Paraplegia via the SPG7 Gene$640.00$690.00
Orotic Aciduria via UMPS Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via BMP1 Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via CRTAP Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via FKBP10 Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via P3H1 / LEPRE1 Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via SERPINF1 Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via SP7 Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via WNT1 Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via the COL1A1 Gene$640.00
Osteogenesis Imperfecta via the COL1A2 Gene$640.00
Osteogenesis Imperfecta via the IFITM5 Gene$440.00
Osteogenesis Imperfecta via the SERPINH1 Gene$650.00
Osteogenesis Imperfecta via the TMEM38B Gene$650.00
Osteogenesis Imperfecta-Bruck Syndrome Type II via the PLOD2 Gene$1190.00
Osteopetrosis via CLCN7 Gene Sequencing with CNV Detection$890.00
Osteopetrosis via OSTM1 Gene Sequencing with CNV Detection$890.00
Osteopetrosis via the CA2 Gene$640.00$690.00
Osteopetrosis via the SNX10 Gene$650.00
Osteopetrosis via the TCIRG1 Gene$1100.00
Osteopetrosis via the TNFSF11 Gene$540.00
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene$640.00$690.00
Ovarian Cancer and Rhabdoid Tumor Predisposition Syndrome via the SMARCA4 Gene$640.00$690.00
Ovarian Dysgenesis via the BMP15 Gene$490.00$690.00
Ovarian Dysgenesis via the FSHR Gene$860.00$690.00
Ovarian Hyperstimulation Syndrome via the FSHR Gene$860.00$690.00
P450 Oxidoreductase Deficiency via POR Gene Sequencing with CNV Detection$890.00
PDE6B Related Disorders via the PDE6B Gene$640.00$690.00
PITX2- Related Disorders via PITX2 Gene Sequencing with CNV Detection$890.00
PLA2G6-Associated Neuroderation, Infantile Neuroaxonal Dystrophy and Parkinson Disease via PLA2G6 Gene Sequencing with CNV Detection$890.00
PLP1-Related Disorders via PLP1 Gene Sequencing with CNV Detection$890.00
PMP22-Related Neuropathies$540.00$690.00
POLG-Related Mitochondrial Disorders via the POLG Gene$640.00$690.00
PRKAG2-Related Disorders via the PRKAG2 Gene$640.00$690.00
PRPS1-Related Disorders$680.00$690.00
PTEN Hamartoma Tumor Syndrome via PTEN Gene Sequencing with CNV Detection$540.00
PTPN11-Related Disorders via PTPN11 Gene Sequencing with CNV Detection$890.00
Paget Disease of Bone via the SQSTM1 Gene$640.00$690.00
Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via the TNFRSF11A Gene$790.00$690.00
Palmoplantar Keratoderma, Epidermolytic via KRT9 Gene Sequencing with CNV Detection$890.00
Pantothenate Kinase-Associated Neurodegeneration (PKAN, Hallervorden-Spatz Disease) via PANK2 Gene Sequencing with CNV Detection$890.00
Papillon-Lefevre Syndrome (PLS) via CTSC Gene Sequencing with CNV Detection$890.00
Paris-Trousseau Thrombocytopenia via FLI1 Gene Sequencing with CNV Detection$890.00
Parkinson Disease via the FBXO7 Gene$640.00
Parkinson's Disease, Early Onset via the PARK7 Gene$650.00$690.00
Parkinson's Disease, Early Onset via the PINK1 Gene$640.00$690.00
Parkinson's Disease, Juvenile via the PRKN/PARK2 Gene$640.00$690.00
Parkinsonism with Spasticity and Mental Retardation with Epilepsy, Hedera Type via ATP6AP2 Gene Sequencing with CNV Detection$890.00
Paroxysmal Nonkinesigenic Dyskinesia (DYT8) via PNKD Gene Sequencing with CNV Detection$890.00
Paroxysmal Paralytic Rhabdomyolysis via LPIN1 Gene Sequencing with CNV Detection$890.00
Pediatric Granulomatous Arthritis via the NOD2 Gene$640.00
Peeling Skin Syndrome via TGM5 Gene Sequencing with CNV Detection$890.00
Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via LBR Gene Sequencing with CNV Detection$890.00
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct via FOXI1 Gene Sequencing with CNV Detection$890.00
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct via the KCNJ10 Gene$540.00$690.00
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct via the SLC26A4 Gene$640.00$690.00
Peripheral Neuropathies via the HINT1 Gene$490.00$690.00
Periventricular Heterotopia with Microcephaly via the ARFGEF2 Gene$640.00$690.00
Perlman Syndrome via the DIS3L2 Gene$1220.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX13 Gene Sequencing with CNV Detection$890.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX1 Gene$640.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX10 Gene$610.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX12 Gene$390.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX14 Gene$640.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX16 Gene$640.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX19 Gene$650.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX2 Gene$490.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX26 Gene$610.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX3 Gene$640.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene$640.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX6 Gene$640.00$690.00
Perrault Syndrome Type 1 via the HSD17B4 Gene$640.00$690.00
Perrault Syndrome Type 2 via HARS2 Gene Sequencing with CNV Detection$890.00
Perrault Syndrome Type 3 and Deafness, Autosomal Recessive 8 (DFNB8) via the CLPP Gene$650.00$690.00
Perrault Syndrome Type 4 via LARS2 Gene Sequencing with CNV Detection$890.00
Peters Plus Syndrome via B3GALTL/B3GLCT Gene Sequencing with CNV Detection$890.00
Peutz-Jeghers Syndrome via STK11 Gene Sequencing with CNV Detection$540.00
Phelan-Mcdermid Syndrome, 22q13 Deletion Syndrome, or Autism Spectrum Disorder via the SHANK3 Gene$1590.00$690.00
Phenylalanine Hydroxylase Deficiency via the PAH Gene$810.00$690.00
Phosphoglycerate Dehydrogenase Deficiency and Neu-Laxova Syndrome 1 via the PHGDH Gene$810.00
Phosphoglycerate Kinase Deficiency via the PGK1 Gene$640.00$690.00
Piebaldism and Familial Gastrointestinal Stromal Tumors (GISTs) via the KIT Gene$640.00$690.00
Pierson Syndrome and Congenital Nephrotic Syndrome via the LAMB2 Gene$640.00$690.00
Pitt-Hopkins Syndrome via TCF4 Gene Sequencing with CNV Detection$890.00
Plectinopathy via the PLEC Gene$2420.00$690.00
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via FAM111B Gene Sequencing with CNV Detection$890.00
Polyglucosan Body Myopathy Type I, with or without Immunodeficiency, via RBCK1 Gene Sequencing with CNV Detection$890.00
Pontocerebellar Hypoplasia via the EXOSC3 Gene$580.00
Pontocerebellar Hypoplasia via the RARS2 Gene$640.00$690.00
Pontocerebellar Hypoplasia via the TSEN2 Gene$640.00$690.00
Pontocerebellar Hypoplasia via the TSEN34 Gene$540.00$690.00
Pontocerebellar Hypoplasia via the TSEN54 Gene$640.00$690.00
Pontocerebellar Hypoplasia via the VRK1 Gene$640.00$690.00
Popliteal Pterygium Syndrome 2, Lethal Type via RIPK4 Gene Sequencing with CNV Detection$890.00
Porphyria Cutanea Tarda Type II/Hepatoerythropoietic Porphyria via UROD Gene Sequencing with CNV Detection$890.00
Posterior Microphthalmia via PRSS56 Gene Sequencing with CNV Detection$890.00
Premature Ovarian Failure via the FIGLA Gene$540.00$690.00
Premature Ovarian Failure via the MCM8 Gene$1100.00
Premature Ovarian Failure/Ovarian Dysgenesis via SOHLH1 Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via C21ORF59 Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via CCDC151 Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via CCNO Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via DNAL1 Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via NME8 (TXNDC3) Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via RSPH4A Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via ZMYND10 Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via the CCDC103 Gene$490.00
Primary Ciliary Dyskinesia (PCD) via the CCDC114 Gene$640.00
Primary Ciliary Dyskinesia (PCD) via the CCDC39 Gene$640.00$690.00
Primary Ciliary Dyskinesia (PCD) via the CCDC40 Gene$640.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF1 / LRRC50 Gene$640.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF2 Gene$640.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF5 (HEATR2) Gene$970.00
Primary Ciliary Dyskinesia (PCD) via the DNAH11 Gene$640.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAH5 Gene$640.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAH8 Gene$640.00
Primary Ciliary Dyskinesia (PCD) via the DNAI1 Gene$640.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAI2 Gene$640.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DRC1 Gene$640.00
Primary Ciliary Dyskinesia (PCD) via the LRRC6 Gene$640.00
Primary Ciliary Dyskinesia (PCD) via the RPGR Gene$1090.00$690.00
Primary Ciliary Dyskinesia (PCD) via the RSPH1 Gene$640.00
Primary Ciliary Dyskinesia (PCD) via the RSPH9 Gene$540.00$690.00
Primary Ciliary Dyskinesia (PCD) via the SPAG1 Gene$640.00
Primary Ciliary Dyskinesia via the DNAAF3 Gene$640.00$690.00
Primary Congenital Glaucoma via the CYP1B1 Gene$650.00$690.00
Primary Congenital Glaucoma via the LTBP2 Gene$640.00$690.00
Primary Familial and Congenital Polycythemia (PFCP) via EPOR Gene Sequencing with CNV Detection$890.00
Primary Hyperoxaluria Type 1 via the AGXT Gene$640.00$690.00
Primary Hyperoxaluria Type 3 via the HOGA1 Gene$640.00
Primary Hyperoxaluria type 2 via the GRHPR Gene$640.00$690.00
Primary Immunodeficiency via IRAK4 Gene Sequencing with CNV Detection$890.00
Primary Immunodeficiency via the PIK3CD Gene$1310.00
Primary Macronodular Adrenal Hyperplasia via ARMC5 Gene Sequencing with CNV Detection$890.00
Primary Microcephaly, Autosomal Recessive, via ASPM Gene Sequencing with CNV Detection$890.00
Primary Microcephaly, Autosomal Recessive, via CDK5RAP2 Gene Sequencing with CNV Detection$890.00
Primary Microcephaly, Autosomal Recessive, via CEP152 Gene Sequencing with CNV Detection$890.00
Primary Microcephaly, Autosomal Recessive, via STIL Gene Sequencing with CNV Detection$890.00
Primary Microcephaly, Autosomal Recessive, via WDR62 Gene Sequencing with CNV Detection$890.00
Primary Microcephaly, Autosomal Recessive, via the MCPH1 Gene$780.00$690.00
Primary Open Angle Glaucoma via the MYOC Gene$640.00$690.00
Primary Pigmented Nodular Adrenocortical Disease via PDE11A Gene Sequencing with CNV Detection$890.00
Primordial Dwarfism via POC1A Gene Sequencing with CNV Detection$890.00
Primordial Dwarfism via XRCC4 Gene Sequencing with CNV Detection$890.00
Primordial Dwarfism via the LARP7 Gene$1060.00
Primrose Syndrome via ZBTB20 Gene Sequencing with CNV Detection$890.00
Progressive Familial Heart Block via the TRPM4 Gene$640.00
Progressive Myoclonic Epilepsy via the GOSR2 Gene$650.00$690.00
Progressive Myoclonic Epilepsy, With or Without Renal Failure, via the SCARB2 Gene$640.00$690.00
Propionic Acidemia via the PCCA Gene$640.00$690.00
Propionic Acidemia via the PCCB Gene$640.00$690.00
Protein C Deficiency via PROC Gene Sequencing with CNV Detection$890.00
Protein S Deficiency via the PROS1 Gene$910.00$690.00
Prothrombin/Factor II Deficiency via the F2 Gene$640.00$690.00
Proximal Renal Tubular Acidosis with Ocular Abnormalities via the SLC4A4 Gene$640.00
Pseudohypoaldosteronism Type II via the CUL3 Gene$640.00$690.00
Pseudohypoaldosteronism Type II via the KLHL3 Gene$640.00$690.00
Pseudohypoaldosteronism Type II via the WNK1 Gene$640.00$690.00
Pseudohypoaldosteronism Type II via the WNK4 Gene$640.00$690.00
Pterin-4 alpha-Carbinolamine Dehydratase (PCD) Deficiency via the PCBD1 Gene$490.00$690.00
Pulmonary Arterial Hypertension (PAH) via BMPR2 Gene Sequencing with CNV Detection$890.00
Pulmonary Fibrosis Syndrome via the SFTPA2 Gene$690.00
Pyridoxine 5'-Phosphate Oxidase Deficiency via PNPO Gene Sequencing with CNV Detection$890.00
Pyridoxine-Dependent Epilepsy via the ALDH7A1 Gene$640.00$690.00
Pyruvate Carboxylase Deficiency via the PC Gene$640.00$690.00
Pyruvate Dehydrogenase E1α Deficiency via the PDHA1 Gene$810.00$690.00
Pyruvate Dehydrogenase E1β Deficiency via the PDHB Gene$750.00$690.00
Pyruvate Dehydrogenase E2 Deficiency via the DLAT Gene$990.00$690.00
Pyruvate Dehydrogenase E3-Binding Protein (E3BP) Deficiency via PDHX Gene Sequencing with CNV Detection$890.00
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency via LIAS Gene Sequencing with CNV Detection$890.00
Pyruvate Dehydrogenase Phosphatase Deficiency via PDP1 Gene Sequencing with CNV Detection$890.00
Pyruvate Kinase Deficiency with Hemolytic Anemia via PKLR Gene Sequencing with CNV Detection$890.00
RAF1-Related Disorders via RAF1 Gene Sequencing with CNV Detection$890.00
REEP1-Related Disorders via REEP1 Gene Sequencing with CNV Detection$890.00
RHO-Related Disorders via RHO Gene Sequencing with CNV Detection$890.00
RLBP1-Related Disorders via the RLBP1 Gene$650.00$690.00
RPE65-Associated Disorders via RPE65 Gene Sequencing with CNV Detection$640.00
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene$640.00$690.00
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$640.00$690.00
RYR1-Related Congenital Myopathies via the RYR1 Gene$780.00$690.00
Rapsyn-Related Disorders via the RAPSN Gene$610.00$690.00
Refsum Disease via the PHYH Gene$640.00$690.00
Renal Coloboma Syndrome and Isolated Renal Hypoplasia via the PAX2 Gene$640.00$690.00
Renal Cysts and Diabetes Syndrome via HNF1B Gene Sequencing with CNV Detection$890.00
Renal Hypodysplasia (RHD) via the SIX2 Gene$490.00$690.00
Renal Hypomagnesemia 3 via CLDN16 Gene Sequencing with CNV Detection$890.00
Renal Hypomagnesemia 5 via the CLDN19 Gene$540.00$690.00
Renal Hypouricemia Type 2 via SLC2A9 Gene Sequencing with CNV Detection$890.00
Renpenning Syndrome via PQBP1 Gene Sequencing with CNV Detection$890.00
Restrictive Dermopathy and Mandibuloacral Dysplasia with Type B Lipodystrophy via ZMPSTE24 Gene Sequencing with CNV Detection$890.00
Retinitis Pigmentosa 35 (RP35) and Cone-Rod Dystrophy 10 (CORD10) via the SEMA4A Gene$640.00$690.00
Retinitis Pigmentosa 38 (RP38) via MERTK Gene Sequencing with CNV Detection$890.00
Retinitis Pigmentosa 58 (RP58) via the ZNF513 Gene$650.00
Retinitis Pigmentosa 7 via the ROM1 Gene$540.00$690.00
Retinitis Pigmentosa via CNGB1 Gene Sequencing with CNV Detection$890.00
Retinitis Pigmentosa via IMPDH1 Gene Sequencing with CNV Detection$890.00
Retinitis Pigmentosa via PRPF31 Gene Sequencing with CNV Detection$890.00
Retinitis Pigmentosa via PRPF8 Gene Sequencing with CNV Detection$890.00
Retinitis Pigmentosa via the CNGA1 Gene$750.00$690.00
Retinitis Pigmentosa via the NR2E3 Gene$650.00$690.00
Retinitis Pigmentosa via the PDE6A Gene$640.00$690.00
Retinitis Pigmentosa via the PRPF3 Gene$870.00$690.00
Retinitis Pigmentosa via the PRPH2 (RDS) Gene$490.00$690.00
Retinitis Pigmentosa via the RP1 Gene$640.00$690.00
Retinoblastoma via the RB1 Gene$640.00$690.00
Rett Syndrome via the MECP2 Gene$640.00$690.00
Rhabdoid Tumor Predisposition Syndrome via SMARCB1 Gene Sequencing with CNV Detection$890.00
Rhizomelic Chondrodysplasia Punctata Type 1 and Adult Refsum Disease via the PEX7 Gene$640.00$690.00
Rhizomelic Chondrodysplasia Punctata Type 2 via the GNPAT Gene$640.00$690.00
Rhizomelic Chondrodysplasia Punctata Type 3 via the AGPS Gene$640.00$690.00
Roberts Syndrome via the ESCO2 Gene$640.00$690.00
Robinow Syndrome and Autosomal Recessive Brachydactyly, Type B1 via ROR2 Gene Sequencing with CNV Detection$890.00
Rothmund Thomson Syndrome via the RECQL4 Gene$640.00$690.00
Rotor Syndrome via SLCO1B1 Gene Sequencing with CNV Detection$890.00
Rotor Syndrome via SLCO1B3 Gene Sequencing with CNV Detection$890.00
Rubinstein-Taybi Syndrome via the CREBBP Gene$640.00$690.00
Rubinstein-Taybi Syndrome via the EP300 Gene$640.00$690.00
S-Adenosylhomocysteine Hydrolase Deficiency via AHCY Gene Sequencing with CNV Detection$890.00
SECISBP2-Related Disorders via the SECISBP2 Gene$640.00
SLC25A13-Related Disorders via the SLC25A13 Gene$640.00$690.00
SOX2-Related Ocular Disorders via SOX2 Gene Sequencing with CNV Detection$890.00
SRY-related Disorders of Sex Development via the SRY Gene$440.00$690.00
SUCLA2 -Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLA2 Gene$810.00$690.00
SUCLG1-Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLG1 Gene$640.00$690.00
SUCLG2-Related Mitochondrial DNA Depletion Syndrome via the SUCLG2 Gene$640.00$690.00
SURF1-Related Leigh Syndrome (LS) via SURF1 Gene Sequencing with CNV Detection$890.00
Saethre-Chotzen Syndrome Via the TWIST1 Gene$440.00
Sandhoff Disease via the HEXB Gene$870.00$690.00
Schimke Immunoosseous Dysplasia via the SMARCAL1 Gene$640.00$690.00
Schnyder Crystalline Corneal Dystrophy (SCCD) via UBIAD1 Gene Sequencing with CNV Detection$890.00
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via ATR Gene Sequencing with CNV Detection$890.00
Seipin-Related Disorders via the BSCL2 Gene$640.00$690.00
Seizures, Cortical Blindness, Microcephaly Syndrome and Deafness, Autosomal Dominant 1 (DFNA1) via the DIAPH1 Gene$710.00$690.00
Selenoprotein N, 1 via the SELENON/SEPN1 Gene$640.00$690.00
Sengers Syndrome via AGK Gene Sequencing with CNV Detection$890.00
Sepiapterin Reductase (SR) Deficiency via the SPR Gene$540.00
Severe Combined Immunodeficiency/Omenn Syndrome via the DCLRE1C (ARTEMIS) Gene$640.00$690.00
Severe Combined Immunodeficiency/Omenn Syndrome via the IL7R Gene$640.00$690.00
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG1 Gene$640.00$690.00
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG2 Gene$580.00$690.00
Severe Congenital Neutropenia (Dursun Syndrome) via G6PC3 Gene Sequencing with CNV Detection$890.00
Severe Congenital Neutropenia (Kostmann Disease) via the HAX1 Gene$560.00$690.00
Severe Congenital Neutropenia and Cyclic Neutropenia via ELANE Gene Sequencing with CNV Detection$890.00
Severe Congenital Neutropenia and Neutrophilia via CSF3R Gene Sequencing with CNV Detection$890.00
Severe Congenital Neutropenia via the GFI1 Gene$670.00$690.00
Severe Congenital Neutropenia via the VPS45 Gene$640.00
Severe MTHFR Deficiency via the MTHFR Gene$640.00$690.00
Short Chain Acyl-CoA Dehydrogenase Deficiency via ACADS Gene Sequencing with CNV Detection$890.00
Short Stature with or without Partial Isolated Growth Hormone Deficiency via the GHSR Gene$540.00$690.00
Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene$520.00$690.00
Shprintzen-Goldberg Syndrome via the SKI Gene$640.00$690.00
Shwachman-Diamond Syndrome via the SBDS Gene$440.00$690.00
Sialic Acid Storage Disorder (Salla Disease) via the SLC17A5 Gene$840.00
Sialuria via the GNE Gene, Exon 5$250.00$690.00
Sick Sinus Syndrome and Brugada Syndrome via the HCN4 Gene$640.00$690.00
Simpson-Golabi-Behmel Syndrome via the GPC3 Gene$680.00$690.00
Sitosterolemia via ABCG5 Gene Sequencing with CNV Detection$890.00
Sitosterolemia via the ABCG8 Gene$640.00
Sjogren-Larsson Syndrome via the ALDH3A2 Gene$750.00
Slow Acetylation, Drug-Induced Hepatotoxicity, and Other Adverse Drug Reactions via the NAT2 Gene$440.00
Small Patella Syndrome via TBX4 Gene Sequencing with CNV Detection$890.00
Smith-Lemli-Opitz Syndrome via the DHCR7 Gene$710.00$690.00
Smith-Magenis and Potocki-Lupski syndromes via RAI1 Gene Sequencing with CNV Detection$890.00
Snyder-Robinson Syndrome, Spermine Synthase Deficiency via the SMS Gene$870.00$690.00
Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via the SCN9A Gene$640.00$690.00
Sorsby Fundus Dystrophy via the TIMP3 Gene$540.00$690.00
Sotos Syndrome via the NSD1 Gene$640.00$690.00
Spastic Paraplegia 11 via SPG11 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 12 via RTN2 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 13 via the HSPD1 Gene$840.00
Spastic Paraplegia 15 via ZFYVE26 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 21 (Mast Syndrome) via SPG21(ACP33) Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 28 via DDHD1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 35 via FA2H Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 3A via the ATL1 Gene$640.00
Spastic Paraplegia 4 via SPAST Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 52 via AP4S1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 53 via the VPS37A Gene$870.00
Spastic Paraplegia 56 via CYP2U1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 58 via KIF1C Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 59 via the USP8 Gene$1220.00
Spastic Paraplegia 5A via CYP7B1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 6 via NIPA1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 61 via ARL6IP1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 72 via REEP2 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 75 via MAG Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 8 via WASHC5/KIAA0196 Gene Sequencing with CNV Detection$890.00
Specialized Testing of the Mutational Hotspot RPGR (isoform C) ORF15 Region$440.00
Spinal Muscular Atrophy with Respiratory Distress Type 1 via the IGHMBP2 Gene$640.00$690.00
Spinal Muscular Atrophy, Autosomal Dominant, Adult-Onset and Amyotrophic Lateral Sclerosis-8 via VAPB Gene Sequencing with CNV Detection$890.00
Spinocerebellar Ataxia 21 via TMEM240 Gene Sequencing with CNV Detection$890.00
Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146$640.00$690.00
Spinocerebellar Ataxia-12 via the WWOX Gene$640.00
Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via DDR2 Gene Sequencing with CNV Detection$890.00
Spondylocostal Dysostosis and Spondylothoracic Dysostosis via the MESP2 Gene$540.00$690.00
Spondylocostal Dysostosis via DLL3 Gene Sequencing with CNV Detection$890.00
Spondylocostal Dysostosis via HES7 Gene Sequencing with CNV Detection$890.00
Spondylocostal Dysostosis via the LFNG Gene$670.00$690.00
Spondylocostal Dysostosis via the TBX6 Gene$640.00
Spondyloenchondrodysplasia with Immune Dysregulation via the ACP5 Gene$490.00$690.00
Stargardt disease (STGD), Fundus Flavimaculatus (FFM) or Retinal Dystrophy, Early-Onset Severe via the ABCA4 Gene$890.00$690.00
Steroid-Resistant Nephrotic Syndrome (SRNS) via the PLCE1 Gene$640.00$690.00
Steroid-Resistant Nephrotic Syndrome (SRNS)/ Focal Segmental Glomerulosclerosis (FSGS) via the TRPC6 Gene$640.00$690.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ6 Gene Sequencing with CNV Detection$890.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ8B/ADCK4 Gene Sequencing with CNV Detection$890.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ2 Gene$680.00$690.00
Steroid-Resistant Nephrotic Syndrome via the NPHS2 Gene$710.00$690.00
Steroid-Resistant Nephrotic syndrome via the WT1 Gene$840.00$690.00
Stickler Syndrome Type II, Marshall Syndrome, and Fibrochondrogenesis via the COL11A1 Gene$640.00$690.00
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene$640.00$690.00
Stuttering via the NAGPA Gene$640.00$690.00
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via the OXCT1 Gene$640.00$690.00
Sulfite Oxidase Deficiency via the SUOX Gene$680.00
Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene$850.00$690.00
Surfactant Deficiency via the ABCA3 Gene$640.00$690.00
Surfactant Protein B Deficiency via the SFTPB Gene$640.00$690.00
Surfactant Protein C Deficiency via the SFTPC Gene$650.00$690.00
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene$440.00
Syndromic Intellectual Disability via the PIGY Gene$250.00
Syndromic Intellectual Disability via the PURA Gene$680.00
Syndromic Intellectual Disability/Autism Spectrum Disorder via DYRK1A Gene Sequencing with CNV Detection$890.00
Syndromic Microphthalmia via the OTX2 Gene$490.00$690.00
Systemic Primary Carnitine Deficiency via the SLC22A5 Gene$640.00$690.00
TACO1-Related Leigh Syndrome (LS) via the TACO1 Gene$650.00
TARP Syndrome via RBM10 Gene Sequencing with CNV Detection$890.00
TFG-Related Disorders via TFG Gene Sequencing with CNV Detection$890.00
TGFBI-Associated Corneal Dystrophies via TGFBI Gene Sequencing with CNV Detection$890.00
TK2-Related Mitochondrial DNA Depletion Syndrome via the TK2 Gene$640.00$690.00
TNF-Receptor Associated Periodic Syndrome (TRAPS) via the TNFRSF1A Gene$680.00$690.00
TNXB-Related Disorders via the TNXB Gene$1090.00$690.00
TP63-Related Disorders via TP63 Gene Sequencing with CNV Detection$890.00
TREM2-Related Disorders via TREM2 Gene Sequencing with CNV Detection$890.00
TRPV4-related Disorders via the TRPV4 Gene$640.00$690.00
TSFM-Related Combined Oxidative Phosphorylation Deficiency via TSFM Gene Sequencing with CNV Detection$890.00
TULP1-Associated Disorders via TULP1 Gene Sequencing with CNV Detection$890.00
Tay-Sachs Disease via the HEXA Gene$840.00$690.00
Telethoninopathy via the TCAP Gene$440.00$690.00
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome via KCNH1 Gene Sequencing with CNV Detection$890.00
Tenorio Syndrome via RNF125 Gene Sequencing with CNV Detection$890.00
Thanatophoric Dysplasia (TD) via the FGFR3 Gene$520.00$690.00
Thiamine Responsive Megaloblastic Anemia via SLC19A2 Gene Sequencing with CNV Detection$890.00
Thiopurine S-Methyltransferase (TPMT) Deficiency via TPMT Gene Sequencing with CNV Detection$890.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the ACTA2 Gene$650.00$690.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the MYH11 Gene$640.00$690.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the MYLK Gene$640.00$690.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the SMAD3 Gene$640.00$690.00
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene$540.00
Thrombocytopenia and Predisposition to Myeloid Malignancies via the ANKRD26 Gene$640.00$690.00
Thrombocytopenia and Related Hematopoietic Disorders via GATA1 Gene Sequencing with CNV Detection$890.00
Thrombocytopenia via CYCS Gene Sequencing with CNV Detection$890.00
Thrombocytopenia via the GFI1B Gene$640.00
Thrombocytopenia via the MASTL Gene$640.00$690.00
Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via the RUNX1 Gene$680.00$690.00
Thrombotic Thrombocytopenic Purpura (TTP) via the ADAMTS13 Gene$640.00$690.00
Thromboxane A2 Receptor Deficiency via TBXA2R Gene Sequencing with CNV Detection$890.00
Thyroid Hormone Resistance via THRB Gene Sequencing with CNV Detection$890.00
Timothy Syndrome and Brugada Syndrome via the CACNA1C Gene$640.00$690.00
Tooth Agenesis via PAX9 Gene Sequencing with CNV Detection$890.00
Townes-Brocks Syndrome via SALL1 Gene Sequencing with CNV Detection$890.00
Transcobalamin II Deficiency via the TCN2 Gene$640.00
Treacher Collins Syndrome via the POLR1C Gene$640.00
Treacher Collins Syndrome via the POLR1D Gene$440.00
Treacher Collins Syndrome via the TCOF1 Gene$640.00
Tricho-Rhino-Phalangeal Syndrome Types I & III via TRPS1 Gene Sequencing with CNV Detection$890.00
Trimethylaminuria via FMO3 Gene Sequencing with CNV Detection$890.00
Triosephosphate Isomerase Deficiency via the TPI1 Gene$680.00$690.00
Tropomyosin 2-Related Disorders via TPM2 Gene Sequencing with CNV Detection$890.00
Tuberous Sclerosis Complex via the TSC1 Gene$640.00$540.00
Tuberous Sclerosis Complex via the TSC2 Gene$640.00$540.00
Tubular Aggregate Myopathy via the STIM1 Gene$640.00$690.00
Tumor Predisposition Syndrome, Uveal Melanoma and Mesothelioma via BAP1 Gene Sequencing with CNV Detection$890.00
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via the SCN4A Gene$640.00$690.00
Type VI Collagenopathy via the COL6A1 Gene$640.00$690.00
Type VI Collagenopathy via the COL6A2 Gene$640.00$690.00
Type VI Collagenopathy via the COL6A3 Gene$640.00$690.00
Type VI-Related Collagenopathy via the COL12A1 Gene$640.00$690.00
Tyrosinemia Type III and Hawkinsinuria via HPD Gene Sequencing with CNV Detection$890.00
Tyrosinemia, Type I via the FAH Gene$580.00$690.00
Tyrosinemia, Type II via the TAT Gene$780.00$690.00
UCP2-Related Congenital Hyperinsulinism via the UCP2 Gene$650.00$690.00
Ulnar-Mammary Syndrome via TBX3 Gene Sequencing with CNV Detection$890.00
Urofacial Syndrome 1 via HPSE2 Gene Sequencing with CNV Detection$890.00
Urofacial Syndrome 2 via LRIG2 Gene Sequencing with CNV Detection$890.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 12 (DFNB12) via the CDH23 Gene$640.00$690.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 18 (DFNB18) via the USH1C Gene$640.00$690.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 23 (DFNB23) via the PCDH15 Gene$780.00$690.00
Usher Syndrome Type 1 via USH1G Gene Sequencing with CNV Detection$890.00
Usher Syndrome Type 1, Deafness, Autosomal Dominant 11 (DFNA11) and Deafness, Autosomal Recessive 2 (DFNB2) via the MYO7A Gene$640.00$690.00
Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene$640.00$690.00
Usher Syndrome Type 2 via the ADGRV1 (GPR98) Gene$640.00$690.00
Usher Syndrome Type 2 via the USH2A Gene$780.00$690.00
Usher Syndrome Type 2C and Deafness, Autosomal Recessive 57 (DFNB57) via the PDZD7 Gene$640.00$690.00
Usher Syndrome Type 3 via the CLRN1 Gene$490.00$690.00
Usher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via CIB2 Gene Sequencing with CNV Detection$890.00
Valosin-Containing Protein-Related Disorders via the VCP Gene$640.00$690.00
Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via DCHS1 Gene Sequencing with CNV Detection$890.00
Van der Woude Syndrome (VWS) via GRHL3 Gene Sequencing with CNV Detection$890.00
Variegate Porphyria via the PPOX Gene$640.00$690.00
Ventricular Septal Defects, Tetralogy of Fallot via the FOXH1 Gene$480.00$690.00
Very Long Chain Acyl-CoA Dehydrogenase Deficiency via the ACADVL Gene$750.00$690.00
Vitreoretinopathy, Neovascular Inflammatory via the CAPN5 Gene$640.00$690.00
Von Hippel-Lindau Disease via VHL Gene Sequencing with CNV Detection$540.00
WFS1-Related Disorders via WFS1 Gene Sequencing with CNV Detection$890.00
Waardenburg Syndrome Type IIA via MITF Gene Sequencing with CNV Detection$890.00
Waardenburg Syndrome Type IID via the SNAI2 Gene$540.00$690.00
Waardenburg Syndrome Type IVA via the EDNRB Gene$680.00$690.00
Waardenburg Syndrome Type IVB via the EDN3 Gene$580.00$690.00
Waardenburg Syndrome Types I and III via the PAX3 Gene$680.00$690.00
Waardenburg Syndrome Types IIE and IVC via the SOX10 Gene$680.00$690.00
Wagner Syndrome via the VCAN Gene$640.00$690.00
Walker-Warburg Syndrome via TMEM5 Gene Sequencing with CNV Detection$890.00
Walker-Warburg Syndrome via the B3GNT1(B4GAT1) Gene$540.00$690.00
Walker-Warburg Syndrome via the Glycosyltransferase-Like Domain-Containing Protein 2 (POMGNT2) Gene$650.00$690.00
Walker-Warburg Syndrome via the Isoprenoid Synthase Domain Containing (ISPD) Gene$640.00$690.00
Walker-Warburg Syndrome via the POMGNT1 Gene$660.00$690.00
Walker-Warburg Syndrome via the POMT1 Gene$640.00$690.00
Walker-Warburg Syndrome via the POMT2 Gene$640.00$690.00
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome via CXCR4 Gene Sequencing with CNV Detection$890.00
Weaver Syndrome via EZH2 Gene Sequencing with CNV Detection$890.00
Welander Distal Myopathy via the TIA1 Gene$640.00
Werner Syndrome via the WRN Gene$640.00$690.00
White-Sutton Syndrome via POGZ Gene Sequencing with CNV Detection$890.00
Wieacker-Wolff Syndrome via ZC4H2 Gene Sequencing with CNV Detection$890.00
Wilms Tumor via the WT1 Gene$840.00$690.00
Wilson Disease / Hepatolenticular Degeneration via the ATP7B Gene$1190.00$690.00
Wiskott-Aldrich Syndrome, X-linked Thrombocytopenia, and X-linked Congenital Neutropenia, via the WAS Gene$710.00$690.00
Wolfram Syndrome Type 2 via CISD2 Gene Sequencing with CNV Detection$890.00
Wolman Disease and Cholesteryl Ester Storage Disease via the LIPA Gene$680.00$690.00
Woodhouse-Sakati Syndrome via DCAF17 Gene Sequencing with CNV Detection$890.00
X-Linked Adrenoleukodystrophy via the ABCD1 Gene$780.00$690.00
X-Linked Complete Congenital Stationary Night Blindness (CSNB1) via the NYX Gene$650.00$690.00
X-Linked Hyper IgM Syndrome via the CD40LG Gene$650.00$690.00
X-Linked Intellectual Disability via the CLCN4 Gene$840.00
X-Linked Lissencephaly-2 via ARX Gene Sequencing with CNV Detection$890.00
X-Linked Spondyloepiphyseal Dysplasia Tarda (SEDT) via TRAPPC2 Gene Sequencing with CNV Detection$890.00
X-linked Agammaglobulinemia via the BTK Gene$1100.00$690.00
X-linked Heterotaxy (HTX1) via ZIC3 Gene Sequencing with CNV Detection$890.00
X-linked Intellectual Disability via RPL10 Gene Sequencing with CNV Detection$890.00
X-linked Intellectual Disability via the DLG3 Gene$1100.00$690.00
X-linked Intellectual Disability via the IL1RAPL1 Gene$810.00$690.00
X-linked Juvenile Retinoschisis via the RS1 Gene$650.00$690.00
X-linked Lenz Microphthalmia Syndrome and Lethal Ogden Syndrome via the NAA10 Gene$680.00
X-linked Megalocornea 1 (MGC1) via CHRDL1 Gene Sequencing with CNV Detection$890.00
X-linked Nance-Horan Syndrome and Congenital Cataract via the NHS Gene$640.00$690.00
X-linked Retinitis Pigmentosa (XLRP) via RP2 Gene Sequencing with CNV Detection$890.00
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene$1090.00$690.00
X-linked Severe Combined Immunodeficiency via the IL2RG Gene$680.00$690.00
X-linked Sideroblastic Anemia via ALAS2 Gene Sequencing with CNV Detection$890.00
Xanthinuria Type I via the XDH Gene$640.00$690.00
Xanthinuria Type II via MOCOS Gene Sequencing with CNV Detection$890.00
Xeroderma Pigmentosum via DDB2 Gene Sequencing with CNV Detection$890.00
Xeroderma Pigmentosum via POLH Gene Sequencing with CNV Detection$890.00
Xeroderma Pigmentosum via the ERCC2 Gene$640.00$690.00
Xeroderma Pigmentosum via the ERCC3 Gene$640.00$690.00
Xeroderma Pigmentosum via the ERCC4 Gene$640.00$690.00
Xeroderma Pigmentosum via the ERCC5 Gene$640.00$690.00
Xeroderma Pigmentosum via the XPA Gene$680.00$690.00
Xeroderma Pigmentosum via the XPC Gene$640.00$690.00
von Willebrand Disease Types 1, 2, and 3 via the VWF Gene$850.00$690.00
β-Ketothiolase Deficiency via the ACAT1 Gene$640.00
α-Actin (Skeletal Muscle Form)-Related Myopathy via ACTA1 Gene Sequencing with CNV Detection$890.00

All of our prices are as listed. No strings attached.

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Sanger

Available Test Methods

  • Sanger - BiDirectional Sanger Sequencing
  • Del/Dup - Deletion/Duplication and Array (aCGH)
  • NextGen - NextGen Sequencing (NGS)