SEARCH RESULTS

Test Descriptions Found:

1705

Searched:

Sanger

Test Available Sequencing Del/Dup Other
α-Actin (Skeletal Muscle Form)-Related Myopathy via the ACTA1 Gene$610.00$690.00
β-Ketothiolase Deficiency via the ACAT1 Gene$970.00
'Bull's Eye' Macular Dystrophy (BEM), Cone-Rod Dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene$990.00$690.00
2q23.1 Microdeletion Syndrome and Autism Spectrum Disorder via the MBD5 Gene$990.00$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$780.00$690.00
3-M Syndrome via the CCDC8 Gene$580.00
3-M Syndrome via the CUL7 Gene$990.00$690.00
3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel$1440.00$730.00
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC1 Gene$990.00$690.00
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 Gene$910.00$690.00
3-Methylglutaconic Aciduria Type I via the AUH Gene$710.00$690.00
46,XX Disorder of Sex Development (DSD) via the WNT4 Gene$610.00$690.00
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$990.00$690.00
AIFM1-Related Disorders via the AIFM1 Gene$990.00$690.00
ALS2-Related Disorders via the ALS2 Gene$1650.00$690.00
AMT-Related Glycine Encephalopathy via the AMT Gene$750.00$690.00
BRAF-Related Disorders via the BRAF Gene$990.00$690.00
CBL-Related Disorders via the CBL Gene$990.00$690.00
CDC73-Related Disorders via the CDC73 Gene$990.00$690.00
CENPJ-Related Disorders via the CENPJ Gene$1060.00$690.00
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
COMP-Related Disorders via the COMP Gene$990.00$690.00
DGUOK-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the DGUOK Gene$650.00$690.00
DHH-related Disorders of Sex Development via the DHH Gene$540.00$690.00
FGFR1-Related Disorders via the FGFR1 Gene$990.00$690.00
FGFR2-Related Disorders via the FGFR2 Gene$990.00$690.00
FGFR3-Related Disorders via the FGFR3 Gene$970.00$690.00
FHL1-Myopathies via the FHL1 Gene$680.00
FLNB-Related Disorders via the FLNB Gene$990.00$690.00
FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via the FRMD7 Gene$940.00$690.00
GALNT3-Related Disorders via the GALNT3 Gene$870.00
GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via the GATA2 Gene$680.00$690.00
GLDC-Related Glycine Encephalopathy via the GLDC gene$1250.00$690.00
GLE1-Related Disorders via the GLE1 Gene$990.00$690.00
GLI3-Related Disorders via the GLI3 Gene$1020.00$690.00
GLUD1-Related Congenital Hyperinsulinism via the GLUD1 Gene$990.00$690.00
GNAS-Related Disorders via the GNAS Gene$910.00$690.00
GYG1-Related Disorders via the GYG1 Gene$750.00
HCFC1-Related Disorders via the HCFC1 Gene$990.00
HESX1-Related Disorders via the HESX1 Gene$580.00$690.00
IRF6-Related Disorders via the IRF6 Gene$670.00$690.00
KARS-Related Disorders via the KARS Gene$990.00$690.00
KAT6B-Related Disorders via the KAT6B Gene$990.00$690.00
KCNJ11-Related Congenital Hyperinsulinism via the KCNJ11 Gene$540.00$690.00
KRAS-Related Disorders via the KRAS Gene$490.00$690.00
LAS1L-Related Disorders via the LAS1L Gene$940.00$690.00
LHCGR-related Disorders via the LHCGR Gene$990.00$690.00
MFN2-Related Disorders via the MFN2 Gene$910.00$690.00
MFRP-Related Oculopathy via the MFRP Gene$810.00$690.00
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 the MRPL3 Gene$810.00
MYH3-Related Distal Arthrogryposis via the MYH3 Gene$990.00$690.00
MYH9-Related Disorders via the MYH9 Gene$990.00$690.00
MYH9-Related Disorders via the MYH9 Gene - Tier 1$890.00$690.00
MYH9-Related Disorders via the MYH9 Gene - Tier 2$1270.00$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$990.00$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 the NSDHL Gene$610.00$690.00
OFD1-Related Disorders via the OFD1 Gene$990.00$690.00
PDE6B Related Disorders via the PDE6B Gene$990.00$690.00
PITX2- Related Disorders via PITX2 Gene$580.00$690.00
PLA2G6-Associated Neurodegeneration, Infantile Neuroaxonal Dystrophy and Parkinson Disease via the PLA2G6 Gene$990.00$690.00
PLP1-Related Disorders via the PLP1 Gene$610.00$690.00
PMP22-Related Neuropathies$540.00$690.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00
PRKAG2-Related Disorders via the PRKAG2 Gene$910.00$690.00
PRPS1-Related Disorders$680.00$690.00
PTPN11-Related Disorders via the PTPN11 Gene$940.00$690.00
RAF1-Related Disorders via the RAF1 Gene$970.00$690.00
REEP1-Related Disorders via the REEP1 Gene$610.00$690.00
RHO-Related Disorders via the RHO Gene$580.00$690.00
RLBP1-Related Disorders via the RLBP1 Gene$650.00$690.00
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$780.00$690.00
RYR1-Related Congenital Myopathies via the RYR1 Gene$1190.00$690.00
SECISBP2-Related Disorders via the SECISBP2 Gene$990.00
SLC25A13-Related Disorders via the SLC25A13 Gene$990.00$690.00
SOX2-Related Ocular Disorders via the SOX2 Gene$610.00$690.00
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$750.00$690.00
SUCLG2-Related Mitochondrial DNA Depletion Syndrome via the SUCLG2 Gene$780.00$690.00
SURF1-Related Leigh Syndrome (LS) via the SURF1 Gene$580.00
TACO1-Related Leigh Syndrome (LS) via the TACO1 Gene$650.00
TFG-Related Disorders via the TFG Gene$910.00
TGFBI-Associated Corneal Dystrophies via the TGFBI Gene$1020.00$690.00
TK2-Related Mitochondrial DNA Depletion Syndrome via the TK2 Gene$710.00$690.00
TP63-Related Disorders via the TP63 Gene$870.00$690.00
TRPV4-related Disorders via the TRPV4 Gene$890.00$690.00
TSFM-Related Combined Oxidative Phosphorylation Deficiency via the TSFM Gene$780.00
TULP1-Associated Disorders via the TULP1 Gene$750.00$690.00
UCP2-Related Congenital Hyperinsulinism via the UCP2 Gene$650.00$690.00
WFS1-Related Disorders via the WFS1 Gene$870.00$690.00
ADP Receptor Deficiency via the P2RY12 Gene$440.00$690.00
Aarskog-Scott Syndrome via the FGD1 Gene$940.00$690.00
Aceruloplasminemia via the CP Gene$1220.00
Achondrogenesis Type 1A via the TRIP11 Gene$1650.00$690.00
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) Sequencing Panel$1440.00$840.00
Achromatopsia (ACHM) via the CNGA3 Gene$650.00$690.00
Achromatopsia (ACHM) via the GNAT2 Gene$650.00$690.00
Achromatopsia via the CNGB3 Gene$970.00$690.00
Achromatopsia via the PDE6C Gene$990.00$690.00
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene$990.00$690.00
Acrofacial Dysostosis 1, Nagar Type via the SF3B4 Gene$780.00
Acute Intermittent Porphyria via the HMBS Gene$870.00$690.00
Acute Myeloid Leukemia (AML) via the CEBPA Gene$580.00$690.00
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene$990.00$690.00
Adams-Oliver Syndrome via the DOCK6 Gene$990.00
Adenosine Deaminase Deficiency via the ADA Gene$810.00$690.00
Adenylosuccinase Deficiency via the ADSL Gene$840.00$690.00
Agnathia-Otocephaly Complex Sanger Sequencing Panel$1070.00$690.00
Agnathia-Otocephaly Complex via the PRRX1 Gene$580.00
Aicardi-Goutiéres Syndrome 5 via the SAMHD1 Gene$990.00$690.00
Aicardi-Goutières Syndrome 2 via the RNASEH2B Gene$910.00$690.00
Aicardi-Goutières Syndrome 3 via the RNASEH2C Gene$540.00$690.00
Aicardi-Goutières Syndrome 7 and Singleton-Merton Syndrome 1 via the IFIH1 Gene$990.00
Alagille Syndrome-1 via the JAG1 Gene$990.00$690.00
Alexander Disease via the GFAP Gene$870.00
Alkaptonuria via the HGD Gene$910.00
Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene$680.00$690.00
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$990.00$690.00
Alport Syndrome (AS) via the COL4A4 Gene$990.00$690.00
Alport Syndrome (AS) via the COL4A5 Gene$1090.00$690.00
Alstrom Syndrome via the ALMS1 Gene$1850.00$690.00
Alzheimer Disease, Familial or Cerebral Amyloid Angiopathy via the APP Gene$990.00$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$780.00$690.00
Alzheimer's Disease, Familial via the PSEN2 Gene$750.00$690.00
Amelogenesis Imperfecta Sequencing Panel$1740.00$1290.00
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 ENAM Gene$910.00$690.00
Amelogenesis Imperfecta via the FAM83H Gene$840.00$690.00
Amelogenesis Imperfecta via the KLK4 Gene$610.00$690.00
Amelogenesis Imperfecta via the MMP20 Gene$780.00$690.00
Amelogenesis Imperfecta via the WDR72 Gene$1220.00$690.00
Amelogenesis Imperfecta with Gingival Hyperplasia Syndrome and Amelogenesis Imperfecta with Renal Syndrome via the FAM20A Gene$840.00$690.00
Aminoacylase-1 Deficiency via the ACY1 Gene$810.00$690.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the ANXA11 Gene$1020.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene$870.00$690.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the PFN1 Gene$540.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the SOD1 Gene$540.00$690.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the TARDBP Gene$580.00$690.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel$1540.00$1290.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via the CHMP2B Gene$610.00
Amyotrophic Lateral Sclerosis via the ANG Gene$370.00$690.00
Amyotrophic Lateral Sclerosis via the OPTN Gene$830.00$690.00
Amyotrophic Lateral Sclerosis via the UBQLN2 Gene$540.00$690.00
Amyotrophic lateral sclerosis (ALS) via the hnRNPA1 Gene$680.00
Andermann Syndrome via the SLC12A6 Gene$990.00
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 the UBE3A Gene$810.00$690.00
Aniridia via The PAX6 Gene$910.00$690.00
Anterior Segment Dysgenesis via FOXE3 Gene$580.00$690.00
Anti-Plasmin Deficiency via the SERPINF2 Gene$780.00$690.00
Antithrombin Deficiency via the SERPINC1 Gene$780.00$690.00
Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 Gene$990.00$690.00
Apparent Mineralocorticoid Excess via the HSD11B2 Gene$680.00$690.00
Argininemia via the ARG1 Gene$710.00$690.00
Argininosuccinate Lyase Deficiency via the ASL Gene$970.00$690.00
Aromatic L-amino Acid Decarboxylase Deficiency via the DDC Gene$870.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel$1540.00$840.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene$990.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSC2 Gene$910.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSG2 Gene$940.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene$840.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TGFB3 Gene$680.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TMEM43 Gene$780.00$690.00
Arterial tortuosity syndrome (ATS) via the SLC2A10 gene$750.00$690.00
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VIPAS39 Gene$990.00$690.00
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VPS33B Gene$990.00$690.00
Aspartylglucosaminuria via the AGA Gene$750.00
Ataxia telangiectasia Syndrome via the ATM Gene$990.00$690.00
Ataxia-telangiectasia-like disorder via the MRE11/MRE11A Gene$990.00$690.00
Atelosteogenesis type 2 (AO2) via the SLC26A2 Gene$650.00$690.00
Atrial Fibrillation Syndrome via the KCNA5 Gene$250.00
Atrial Fibrillation Syndrome via the MYL4 Gene$710.00
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$910.00$690.00
Autism Spectrum Disorders (ASD) via the NLGN4X Gene$910.00$690.00
Autism Spectrum Disorders via the CHD8 Gene$1590.00
Autism Spectrum Disorders via the DSCAM Gene$1590.00
Autism Spectrum Disorders via the FOXP1 Gene$970.00$690.00
Autism Spectrum Disorders via the KMT5B (SUV420H1) Gene$970.00
Autism Spectrum Disorders via the TRIP12 Gene$1590.00
Autism Spectrum Disorders/Intellectual Disability via the ASH1L Gene$1590.00
Autoimmune Lymphoproliferative Syndrome via the FAS Gene$810.00$690.00
Autoimmune Polyendocrinopathy Syndrome Type 1 via the AIRE Gene$970.00$690.00
Autosomal Domianant DOPA-Responsive Dystonia via the GCH1 Gene$680.00$690.00
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$990.00$690.00
Autosomal Dominant Hyper IgE Syndrome via the STAT3 Gene$990.00$690.00
Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1590.00$840.00
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E (LGMD1E) via the DNAJB6 Gene$770.00$690.00
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNA4 Gene$990.00
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$990.00$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 Sequencing Panel$1990.00$960.00
Autosomal Dominant Polycystic Kidney Disease via the PKD1 Gene$1690.00$540.00
Autosomal Dominant Polycystic Kidney Disease via the PKD2 Gene$990.00$690.00
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene$580.00$690.00
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-related disorders via the TWNK/C10orf2 Gene$680.00$690.00
Autosomal Dominant Progressive External Ophthalmoplegia via the DNA2 Gene$990.00$690.00
Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene$710.00$690.00
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene$910.00$690.00
Autosomal Dominant Retinitis Pigmentosa 17 (RP17) via the CA4 Gene$680.00$690.00
Autosomal Dominant Retinitis Pigmentosa 31 (RP31) via the TOPORS Gene$810.00$690.00
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 the GAS1 Gene$440.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene$2670.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ALOX12B Gene$990.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ALOXE3 Gene$940.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the CYP4F22 Gene$940.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the NIPAL4 Gene$610.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the PNPLA1 Gene$750.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the TGM1 Gene$970.00$690.00
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via the ALDH18A1 Gene$1020.00$690.00
Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via the ATP6V0A2 Gene$1250.00$690.00
Autosomal Recessive DOPA-Responsive Dystonia via the TH Gene$840.00$690.00
Autosomal Recessive Hyper IgE Syndrome via the DOCK8 Gene$990.00$690.00
Autosomal Recessive Isolated Ectopia Lentis-2 via the ADAMTSL4 Gene$1190.00$690.00
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via the MPC1 (BRP44L) Gene$610.00
Autosomal Recessive Polycystic Kidney Disease via the PKHD1 Gene$990.00$690.00
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene$780.00$690.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel$1440.00$840.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the ACE Gene$990.00$690.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGT Gene$680.00$690.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGTR1 Gene$540.00$690.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the REN Gene$750.00$690.00
Autosomal Recessive Retinitis Pigmentosa 36 (RP36) via the PRCD Gene$490.00
Autosomal Recessive Retinitis Pigmentosa via the EYS Gene$990.00
Autosomal Recessive Retinitis Pigmentosa via the FLVCR1 Gene$990.00
Autosomal Recessive Retinitis pigmentosa 26 (RP26) via the CERKL Gene$870.00$690.00
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$990.00$690.00
Autosomal Recessive Spinocerebellar Ataxia-10 via the ANO10 Gene$860.00$690.00
Autosomal Recessive Transient Infantile Liver Failure (LFIT) via the TRMU Gene$780.00
Autosomal-Recessive Intellectual Disability via the NRXN1 Gene$990.00$690.00
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Bamforth-Lazarus Syndrome via the FOXE1 Gene$580.00$690.00
Baraitser-Winter Cerebrofrontofacial Syndrome Type 1 (Syndromic Intellectual Disability) via the ACTB Gene$580.00
Bardet-Biedl Syndrome Sequencing Panel$1690.00$1290.00
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$910.00$690.00
Bardet-Biedl Syndrome via the BBS4 Gene$910.00$690.00
Bardet-Biedl Syndrome via the BBS5 Gene$780.00$690.00
Bardet-Biedl Syndrome via the BBS7 Gene$990.00$690.00
Bardet-Biedl Syndrome via the BBS9 Gene$990.00$690.00
Bardet-Biedl Syndrome via the MKKS/BBS6 Gene$650.00$690.00
Bardet-Biedl Syndrome via the TRIM32/BBS11 Gene$580.00$690.00
Bardet-Biedl Syndrome via the TTC8/BBS8 Gene$870.00$690.00
Barth Syndrome via the TAZ Gene$680.00$690.00
Bartter Syndrome Type 1 via the SLC12A1 Gene$990.00$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 the CDKN1C Gene$630.00$690.00
Bernard-Soulier Syndrome Sanger Sequencing Panel$1220.00$770.00
Bernard-Soulier Syndrome via the GP1BA Gene$580.00$690.00
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 the BEST1 gene$840.00$690.00
Beta-Thalassemia and Hemoglobinopathy via the HBB Gene$490.00
Beta-propeller Protein-associated Neurodegeneration (BPAN) via the WDR45 Gene$680.00
Bietti Crystalline Corneoretinal Dystrophy via the CYP4V2 Gene$870.00$690.00
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 the FLCN Gene$750.00$690.00
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$990.00$690.00
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via the NR2F1 Gene$580.00$690.00
Brachydactyly via the CHSY1 Gene$910.00
Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency via the BCKDK Gene$810.00$690.00
Branchio-Oculo-Facial Syndrome (BOFS) via the TFAP2A gene$680.00$690.00
Branchiootorenal syndrome via the EYA1 Gene$870.00$690.00
Branchiootorenal syndrome via the SIX1 Gene$440.00$690.00
Branchiootorenal syndrome via the SIX5 Gene$680.00$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$990.00$690.00
Brugada Syndrome via the CACNB2 Gene$990.00$690.00
Brugada Syndrome via the GPD1L Gene$710.00$690.00
Brugada Syndrome via the RANGRF Gene$540.00
Brugada Syndrome via the SCN1B Gene$680.00$690.00
Brugada Syndrome via the SCN3B Gene$580.00$690.00
Brugada Syndrome via the KCNE3 Gene$250.00$690.00
Butyrylcholinesterase Deficiency via the BCHE Gene$610.00
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
CHARGE Syndrome via the SEMA3E Gene$990.00
CHARGE and Kallmann Syndromes Sequencing Panel$1440.00$730.00
CHARGE and Kallmann Syndromes via the CHD7 Gene$990.00$690.00
CHOPS Syndrome via the AFF4 Gene$990.00
Cabezas X-Linked Mental Retardation Syndrome via the CUL4B Gene$1090.00$690.00
Camurati-Engelmann Disease (CED) via the TGFB1 Gene$690.00$690.00
Canavan Disease (Aspartoacylase Deficiency) via the ASPA Gene$680.00
Cantu Syndrome via the ABCC9 Gene$990.00$690.00
Cardio-Facio-Cutaneous Syndrome via the MAP2K1 Gene$910.00$690.00
Cardio-Facio-Cutaneous Syndrome via the MAP2K2 Gene$730.00$690.00
Carney Complex (CNC) via the PRKAR1A Gene$750.00$690.00
Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene$990.00$690.00
Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene$680.00$690.00
Carnitine-Acylcarnitine Translocase Deficiency via the SLC25A20 Gene$710.00$690.00
Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP Gene$250.00$690.00
Cataract 17, Multiple Types (CTRCT17) via the CRYBB1 Gene$580.00
Cataract 22, Multiple Types (CTRCT22) via the CRYBB3 Gene$610.00
Cataract 23 (CTRCT23) via the CRYBA4 Gene$580.00
Cataract 3, Multiple Types (CTRCT3) via the CRYBB2 Gene$610.00
Cataract 9, Multiple Types (CTRCT9) via the CRYAA Gene$490.00
Cataract Type 11 via the PITX3 Gene$580.00
Cataract Type 14 via the GJA3 Gene$540.00
Cataract Type 2 (CTRCT2) via the CRYGC Gene$490.00
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel$1590.00$840.00
Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via the CALM1 Gene$650.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 gene$770.00$690.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene$990.00$690.00
Caveolinopathy via the CAV3 Gene$440.00$690.00
Centronuclear Myopathy, X-Linked via the MTM1 Gene$990.00$690.00
Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 Gene$990.00$690.00
Centronuclear Myopathy-3, Autosomal Dominant via the MYF6 Gene$540.00$690.00
Centronuclear Myopathy-4, Autosomal Dominant (CNM4) via the CCDC78 Gene$750.00$690.00
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) via the NOTCH3 Gene$990.00
Cerebral Cavernous Malformations Sequencing Panel$1440.00$770.00
Cerebral Cavernous Malformations via the CCM2 Gene$730.00$690.00
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10$250.00$690.00
Cerebral Cavernous Malformations via the PDCD10/CCM3 Gene$590.00$690.00
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene$960.00$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$1220.00
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$990.00$690.00
Charcot Marie Tooth Type 4J via the FIG4 Gene$990.00$690.00
Charcot-Marie-Tooth 1C via the LITAF Gene$490.00$690.00
Charcot-Marie-Tooth Type 2E/1F via the NEFL Gene$750.00$690.00
Charcot-Marie-Tooth Type 4B1 via the MTMR2 Gene$990.00$690.00
Charcot-Marie-Tooth Type 4D via the NDRG1 Gene$990.00$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$990.00
Chediak-Higashi Syndrome (CHS) via the LYST Gene$990.00$690.00
Cherubism via the SH3BP2 Gene$840.00
Childhood Absence Epilepsy and Epileptic Encephalopathy via the GABRB3 Gene$840.00$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$990.00$690.00
Christianson Type X-Linked Mental Retardation via the SLC9A6 Gene$870.00$690.00
Chronic Granulomatous Disease via the CYBA Gene$650.00$690.00
Chronic Granulomatous Disease via the CYBB Gene$870.00$690.00
Chronic Granulomatous Disease via the NCF2 Gene$940.00$690.00
Chronic Hereditary Pancreatitis via the CPA1 Gene$750.00$690.00
Chronic Hereditary Pancreatitis via the PRSS1 Gene$650.00$690.00
Chronic Hereditary Pancreatitis via the SPINK1 Gene$540.00$690.00
Chronic Joint Pain and Dysfunction via the MMP13 Gene$750.00
Chronic Pancreatitis Sequencing Panel$1790.00$840.00
Chronic Pancreatitis via the Chymotrypsin C (CTRC) Gene$710.00$690.00
Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene$990.00
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 the RUNX2 Gene$860.00$690.00
Cockayne Syndrome via the ERCC6 Gene$990.00$690.00
Cockayne Syndrome via the ERCC8 Gene$840.00$690.00
Cohen Syndrome via the VPS13B (COH1) Gene$990.00$690.00
Colorectal Cancer Predisposition via the POLD1 Gene$1340.00$690.00
Colorectal Cancer Predisposition via the POLE Gene$2170.00$690.00
Combined Factor V and Factor VIII Deficiency via the LMAN1 Gene$990.00$690.00
Combined Factor V and Factor VIII Deficiency via the MCFD2 Gene$540.00$690.00
Combined Malonic and Methylmalonic Aciduria (CMAMMA) via the ACSF3 Gene$810.00$690.00
Combined Oxidative Phosphorylation Deficiency 14 via the FARS2 Gene$650.00$690.00
Combined Pituitary Hormone Deficiency-2 (CPHD2) via the PROP1 Gene$1490.00$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$990.00$690.00
Cone-Rod Dystrophy (CORDX3) via the CACNA1F Gene$990.00$690.00
Cone-Rod Dystrophy (CRD11) via the Rax2 (Qrx) Gene$540.00$690.00
Cone-Rod Dystrophy and Retinitis Pigmentosa via the C8orf37 Gene$680.00$690.00
Cone-Rod Dystrophy via the CABP4 Gene$610.00$690.00
Cone-Rod Dystrophy via the CDHR1 Gene$990.00$690.00
Cone-Rod Dystrophy via the CNNM4 Gene$780.00$690.00
Cone-Rod Dystrophy via the KCNV2 Gene$580.00$690.00
Cone-Rod Dystrophy via the UNC119 Gene$610.00$690.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) and VACTERL Association via the TRAP1 Gene$1100.00$690.00
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 the DSTYK Gene$1020.00$690.00
Congenital Bile Acid Synthesis Defect Type 2 via the AKR1D1 Gene$840.00$690.00
Congenital Bile Acid Synthesis Defect-5 via the ABCD3 Gene$990.00
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene$990.00$690.00
Congenital Cataracts and Ayme-Gripp Syndrome via the MAF Gene$650.00
Congenital Cataracts via the BFSP1 Gene$780.00
Congenital Central Hypoventilation Syndrome (CCHS) via the ASCL1 Gene$540.00$690.00
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 PHOX2A Gene$540.00$690.00
Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2B Gene$540.00$690.00
Congenital Contractural Arachnodactyly (Beals Syndrome) via the FBN2 Gene$990.00$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 the COG4 Gene$1100.00
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 the ALG3 Gene$680.00$690.00
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 the ALG12 Gene$680.00$690.00
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 the ALG2 Gene$540.00$690.00
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$810.00$690.00
Congenital Dyserythropoietic Anemia Type I via the CDAN1 Gene$990.00$690.00
Congenital Dyserythropoietic Anemia Type II via the SEC23B Gene$990.00$690.00
Congenital Erythropoietic Porphyria via the UROS Gene$750.00
Congenital Factor XIII Deficiency via the F13B Gene$970.00$690.00
Congenital Factor XIII deficiency via the F13A1 Gene$970.00$690.00
Congenital Fiber Type Disproportion Sequencing Panel$1690.00$840.00
Congenital Fibrinogen Deficiency via the FGA Gene$810.00$690.00
Congenital Fibrinogen Deficiency via the FGB Gene$810.00$690.00
Congenital Fibrinogen Deficiency via the FGG Gene$780.00$690.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via the TUBB3 Gene$540.00
Congenital Generalized Lipodystrophy (CGL) Sequencing Panel$1090.00$730.00
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$990.00$690.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene$680.00$690.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via the PAX8 Gene$870.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene$990.00$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$990.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TG Gene$990.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TPO Gene$990.00$690.00
Congenital Hypothyroidism (Thyroid Hormone Resistance) via the THRA Gene$780.00$690.00
Congenital Hypothyroidism (Thyroid Stimulating Hormone Deficiency) via the TSHB Gene$440.00$690.00
Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via the TRH Gene$540.00$690.00
Congenital Hypothyroidism and Neonatal Diabetes Mellitus via the GLIS3 Gene$990.00$690.00
Congenital Ichthyosis and Related Disorders Sequencing Panel$1990.00$840.00
Congenital Interstitial Lung Disease with Nephrotic Syndrome and Epidermolysis Bullosa (ILNEB) via the ITGA3 Gene$990.00$690.00
Congenital Methemoglobinemia via the CYB5R3 Gene$750.00$690.00
Congenital Muscular Dystrophy, Megaconial Type via the CHKB Gene$710.00$690.00
Congenital Myasthenic Syndrome Sequencing Panel$1690.00$1290.00
Congenital Myasthenic Syndrome With Episodic Apnea via the CHAT Gene$940.00$690.00
Congenital Myasthenic Syndrome via the CHRNE Gene$780.00$690.00
Congenital Myasthenic Syndrome via the COLQ Gene$930.00$690.00
Congenital Myasthenic Syndrome via the GFPT1 Gene$990.00$690.00
Congenital Myasthenic Syndrome via the MUSK Gene$930.00$690.00
Congenital Myasthenic Syndrome via the SYT2 Gene$780.00
Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via the CHRNA1 Gene$680.00$690.00
Congenital Myasthenic Syndromes and Multiple Pterygium Syndrome via the CHRND Gene$770.00$690.00
Congenital Myasthenic Syndromes via the CHRNB1 Gene$710.00$690.00
Congenital Myopathy (Native American Myopathy) via the STAC3 Gene$780.00$690.00
Congenital Nephrotic Syndrome via the NPHS1 Gene$990.00$690.00
Congenital Stationary Night Blindness and Retinal Degeneration via the SLC24A1 Gene$990.00$690.00
Congenital Variant Rett syndrome or FOXG1 syndrome via the FOXG1 Gene$650.00$690.00
Conradi-Hunermann syndrome via the EBP Gene$560.00$690.00
Cornelia de Lange Syndrome Sequencing Panel$1790.00$840.00
Cornelia de Lange Syndrome and Wiedemann-Steiner Syndrome via the KMT2A Gene$990.00
Cornelia de Lange Syndrome via the ANKRD11 Gene$840.00$690.00
Cornelia de Lange Syndrome via the HDAC8 Gene$810.00
Cornelia de Lange Syndrome via the NIPBL Gene$990.00$690.00
Cornelia de Lange Syndrome via the RAD21 Gene$990.00
Cornelia de Lange Syndrome via the SMC1A Gene$990.00$690.00
Cornelia de Lange Syndrome via the SMC3 Gene$990.00$690.00
Cortical Dysplasia-Focal Epilepsy Syndrome via the CNTNAP2 Gene$990.00$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$990.00$690.00
Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 Gene$990.00$690.00
Craniofrontonasal Syndrome via the EFNB1 Gene$580.00
Craniosynostosis and Dental Anomalies, Autosomal Recessive Crouzon-like Craniosynostosis via the IL11RA Gene$870.00$690.00
Craniosynostosis via the MSX2 Gene$490.00$690.00
Craniosynostosis via the TCF12 Gene$990.00
Creatine Deficiency Syndrome via the GAMT Gene$610.00$690.00
Creatine Deficiency Syndrome via the GATM Gene$690.00$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$990.00$690.00
Cutis Laxa via the LTBP4 Gene$1440.00$690.00
Cutis Laxa via the FBLN5 Gene$840.00$690.00
Cutis Laxa via the PYCR1 Gene$680.00$690.00
Cutis Laxa, Type 1B (ARCL1B) via the EFEMP2 Gene$750.00$690.00
Cystathioninuria via the CTH Gene$810.00$690.00
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene$990.00$690.00
Cystinosis via the CTNS Gene$810.00
Cystinuria via the SLC3A1 Gene$780.00
Cystinuria via the SLC7A9 Gene$810.00
Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via the PCK1 Gene$840.00$690.00
D-2-Hydroxyglutaric Aciduria Type I via the D2HGDH Gene$810.00$690.00
D-2-Hydroxyglutaric Aciduria Type II via the IDH2 Gene - Targeted Variants Analysis$370.00
DICER1 Syndrome via the DICER1 Gene$990.00$690.00
DOORS Syndrome and TBC1D24-related Epilepsy via the TBC1D24 Gene$750.00$690.00
DYT1 Early-Onset Isolated Dystonia via the TOR1A Gene$580.00$690.00
Danon Disease/Glycogen Storage Disease IIb via the LAMP2 Gene$690.00$690.00
Deafness, Autosomal Dominant 10 (DFNA10) via the EYA4 Gene$990.00$690.00
Deafness, Autosomal Dominant 12 (DFNA12) and Deafness, Autosomal Recessive 21 (DFNB21) via the TECTA Gene$990.00$690.00
Deafness, Autosomal Dominant 15 (DFNA15) via the POU4F3 Gene$540.00$690.00
Deafness, Autosomal Dominant 20 (DFNA20) via the ACTG1 Gene$540.00
Deafness, Autosomal Dominant 22 (DFNA22) and Deafness, Autosomal Recessive 37 (DFNB37) via the MYO6 Gene$990.00$690.00
Deafness, Autosomal Dominant 25 (DFNA25) via the SLC17A8 Gene$870.00$690.00
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$990.00$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 the CRYM Gene$710.00$690.00
Deafness, Autosomal Dominant 44 (DFNA44) via the CCDC50 Gene$970.00$690.00
Deafness, Autosomal Dominant 4A (DFNA4A) via the MYH14 Gene$990.00$690.00
Deafness, Autosomal Dominant 4B (DFNA4B) via the CEACAM16 Gene$680.00$690.00
Deafness, Autosomal Dominant 51 (DFNA51) via the TJP2 Gene$990.00$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 the KITLG Gene$750.00
Deafness, Autosomal Dominant 9 (DFNA9) via the COCH Gene$870.00$690.00
Deafness, Autosomal Recessive 15 (DFNB15) via the GIPC3 Gene$610.00$690.00
Deafness, Autosomal Recessive 24 (DFNB24) via the RDX Gene$940.00$690.00
Deafness, Autosomal Recessive 25 (DFNB25) via the GRXCR1 Gene$540.00$690.00
Deafness, Autosomal Recessive 29 (DFNB29) via the CLDN14 Gene$490.00$690.00
Deafness, Autosomal Recessive 3 (DFNB3) via the MYO15A Gene$990.00$690.00
Deafness, Autosomal Recessive 30 (DFNB30) via the MYO3A Gene$990.00$690.00
Deafness, Autosomal Recessive 35 (DFNB35) via the ESRRB Gene$810.00$690.00
Deafness, Autosomal Recessive 39 (DFNB39) via the HGF Gene$990.00$690.00
Deafness, Autosomal Recessive 42 (DFNB42) via the ILDR1 Gene$810.00$690.00
Deafness, Autosomal Recessive 49 (DFNB49) via the MARVELD2 Gene$810.00$690.00
Deafness, Autosomal Recessive 6 (DFNB6) via the TMIE Gene$540.00$690.00
Deafness, Autosomal Recessive 61 (DFNB61) via the SLC26A5 Gene$990.00$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 the MSRB3 Gene$680.00$690.00
Deafness, Autosomal Recessive 77 (DFNB77) via the LOXHD1 Gene$990.00$690.00
Deafness, Autosomal Recessive 8 (DFNB8) and Deafness, Autosomal Recessive 10 (DFNB10) via the TMPRSS3 Gene$870.00$690.00
Deafness, Autosomal Recessive 9 (DFNB9) via the OTOF Gene$990.00$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 the POU3F4 Gene$540.00$690.00
Deafness, X-Linked 4 (DFNX4) via the SMPX Gene$490.00$690.00
Deafness, X-linked 6 (DFNX6) via the COL4A6 Gene$990.00$690.00
Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A Gene$490.00$690.00
Dent Disease Sequencing Panel$1440.00$690.00
Dent Disease via the CLCN5 Gene$840.00
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 the RPS17 Gene$540.00
Diaphanospondylodysostosis via the BMPER Gene$970.00
Dias-Logan Syndrome via the BCL11A Gene$840.00
Diastrophic dysplasia (DTD) via the SLC26A2 Gene$650.00$690.00
Dihydrolipoamide Dehydrogenase Deficiency via the DLD Gene$840.00$690.00
Dihydropteridine Reductase (DHPR) Deficiency via the QDPR Gene$680.00
Dihydropyrimidinase deficiency via the DPYS Gene$710.00
Dihydropyrimidine Dehydrogenase Deficiency via the DPYD Gene$990.00$690.00
Dilated Cardiomyopathy and Limb-Girdle Muscular Dystrophy Type 2F via the SGCD Gene$650.00$690.00
Dilated Cardiomyopathy via the ANKRD1 Gene$810.00
Dilated Cardiomyopathy via the LAMA4 Gene$990.00
Distal Arthrogryposis 1B via the MYBPC1 Gene$990.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNI2 Gene$610.00$690.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNT3 Gene$860.00$690.00
Distal Arthrogryposis Sequencing Panel$2690.00$840.00
Distal Arthrogryposis Type 7 (Trismus-Pseudocamptodactyly Syndrome) via the MYH8 Gene$1620.00
Distal Arthrogryposis, Autosomal Recessive, Type 5D (DA5D) via the ECEL1 Gene$990.00$690.00
Distal Arthrogryposis/Gordon Syndrome via the PIEZO2 Gene$990.00
Distal Hereditary Motor Neuropathy, Type 7A via the SLC5A7 Gene$750.00$690.00
Distal Myopathy 2 via the MATR3 Gene$840.00$690.00
Distal Renal Tubular Acidosis, Autosomal Recessive, via the ATP6V0A4 Gene$990.00$690.00
Distal Renal tubular acidosis with sensorineural deafness via the ATP6V1B1 Gene$910.00$690.00
Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene$990.00$690.00
Duane Retraction Syndrome Type 2 via the CHN1 Gene$910.00
Duane-Radial Ray Syndrome and Acro-Renal-Ocular Syndrome via the SALL4 Gene$730.00$690.00
Dubin-Johnson Syndrome via the ABCC2 Gene$1500.00$690.00
Dynactin-Related Disorders via the DCTN1 Gene$990.00$690.00
Dynamin-2 Related Disorders via the DNM2 Gene$990.00$690.00
Dyskeratosis Congenita (DC) via the NHP2 Gene$520.00$690.00
Dyskeratosis Congenita (DC) via the NOP10 Gene$370.00$690.00
Dyskeratosis Congenita (DC) and Hoyeraal-Hreidarsson Syndrome via the DKC1 Gene$1020.00$690.00
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel$1680.00$840.00
Dyskeratosis Congenita (DC) and Revesz Syndrome via the TINF2 Gene$710.00$690.00
Dyskeratosis Congenita (DC) via the TERT Gene$990.00$690.00
Dyskeratosis Congenita (DC) via the WRAP53 Gene$790.00$690.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Dystroglycanopathies via the POMK Gene$540.00$690.00
Dystroglycanopathy via the B3GALNT2 Gene$910.00$690.00
Dystroglycanopathy via the DAG1 Gene$710.00$690.00
Dystroglycanopathy via the FKTN Gene$610.00$690.00
Dystroglycanopathy via the LARGE1/LARGE Gene$870.00$690.00
Dystroglycanopathy via the GMPPB Gene$610.00$690.00
Dystrophic Epidermolysis Bullosa (DEB) via the COL7A1 Gene$3040.00$690.00
Dystrophinopathy via the DMD Gene$990.00$690.00
Early Infantile Epilepsies and Autism via the SCN2A Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy 24 via the HCN1 Gene$910.00
Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via the KCNQ2 Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy via the KCNA2 Gene$580.00
Early Infantile Epileptic Encephalopathy via the SCN8A Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy via the SLC25A22 Gene$780.00$690.00
Early Infantile Epileptic Encephalopathy or Kohlschütter-Tönz Syndrome via the SLC13A5 Gene$840.00
Early Infantile Epileptic Encephalopathy-15 and Intellectual Disability via the ST3GAL3 Gene$840.00$690.00
Early Infantile Epileptic encephalopathy-4/Ohtahara syndrome via the STXBP1 Gene$990.00$690.00
Early-Onset Ataxia with Oculomotor Apraxia Type 1 via the APTX Gene$750.00$690.00
Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) via the MEGF10 Gene$990.00$690.00
Ectodermal Dysplasia Sequencing Panel$1440.00$840.00
Ectodermal Dysplasia via the EDA Gene$780.00$690.00
Ectodermal Dysplasia via the EDAR Gene$750.00$690.00
Ectodermal Dysplasia via the EDARADD Gene$650.00$690.00
Ectodermal Dysplasia via the KRT85 Gene$780.00
Ectodermal Dysplasia via the NECTIN1 Gene$750.00
Ectodermal Dysplasia via the WNT10A Gene$580.00$690.00
Ectodermal Dysplasia/Tooth Agenesis via the MSX1 Gene$580.00
Ectodermal Dysplasia/skin Fragility Syndrome via the PKP1 Gene$840.00$690.00
Ehlers-Danlos Syndrome Sequencing Panel$1890.00$840.00
Ehlers-Danlos Syndrome with Progressive Kyphosis, Myopathy, and Hearing Loss (EDSKMH) via the FKBP14 Gene$580.00
Ehlers-Danlos Syndrome, Classic Type via the COL5A1 Gene$990.00$690.00
Ehlers-Danlos Syndrome, Classic Type via the COL5A2 Gene$990.00$690.00
Ehlers-Danlos Syndrome, Kyphoscoliotic Form via the PLOD1 Gene$990.00$690.00
Ehlers-Danlos Syndrome, Type IV via the COL3A1 Gene$990.00$690.00
Ehlers-Danlos syndrome via the TNXB Gene$1990.00$690.00
Ehlers-Danlos syndrome via the TNXB Gene, Exon 35$250.00$690.00
Ellis-van Creveld Syndrome (EVC) Sequencing Panel$1490.00$730.00
Ellis-van Creveld Syndrome via the EVC2 Gene$990.00$690.00
Ellis-van Creveld Syndrome via the EVC Gene$990.00$690.00
Emery-Dreifuss Muscular Dystrophy (EDMD1) via the EMD Gene$550.00$690.00
Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene$780.00
Epidermolysis Bullosa Simplex (EBS) via the KRT5 Gene$780.00$690.00
Epidermolysis Bullosa and Related Disorders Sequencing Panel$1830.00$1290.00
Epidermolysis Bullosa with Pyloric Atresia via the ITGA6 Gene$1250.00$690.00
Epidermolysis Bullosa with Pyloric Atresia via the ITGB4 Gene$990.00$690.00
Epidermolysis Bullosa with Pyloric Atresia via the PLEC Gene$2420.00$690.00
Epidermolytic Hyperkeratosis via the KRT1 Gene$910.00$690.00
Epilepsy and Intellectual Disability in Females via the PCDH19 Gene$870.00$690.00
Epilepsy, X-linked, with Variable Learning Disabilities and Behavior Disorders via the SYN1 Gene$840.00$690.00
Epilepsy: SCN3A-Related Epilepsy via the SCN3A Gene$1780.00
Epilepsy: Benign Familial Neonatal Seizures Type 2 via the KCNQ3 Gene$990.00$690.00
Epileptic Encephalopathy and Intellectual Disability via the CHD2 Gene$990.00$690.00
Epilespy, Autosomal Dominant Lateral Temporal, via the LGI1 Gene$750.00$690.00
Epimerase Deficiency Galactosemia via the GALE Gene$810.00$690.00
Episodic Ataxia Type 1 or Hypomagnesemia via the KCNA1 Gene$250.00$690.00
Erythropoietic Protoporphyria via the FECH Gene$840.00$690.00
Ethylmalonic Encephalopathy via the ETHE1 Gene$810.00$690.00
FBXL4-Related Mitochondrial DNA Depletion Syndrome via the FBXL4 Gene$680.00$690.00
FOXC1-Related Disorders via the FOXC1 Gene$870.00$690.00
FTO-Deficiency Syndrome via the FTO Gene$910.00
Fabry Disease via the GLA Gene$610.00$690.00
Facioscapulohumeral Muscular Dystrophy 2 via the SMCHD1 Gene$990.00$690.00
Factor V Deficiency via the F5 Gene$1290.00$690.00
Factor VII Deficiency via the F7 Gene$750.00$690.00
Factor X Deficiency via the F10 Gene$710.00$690.00
Familial Adenomatous Polyposis via the APC Gene$1090.00$690.00
Familial Amyloidosis (Finnish Type) via the GSN Gene$1020.00$690.00
Familial Amyloidosis via the APOA1 Gene$580.00$690.00
Familial Amyloidosis via the TTR Gene$540.00$690.00
Familial Cold Autoinflammatory Syndrome 2 via the NLRP12 Gene$990.00$690.00
Familial Dysautonomia via the IKBKAP Gene - Full Gene Sequencing$990.00
Familial Dysautonomia via the IKBKAP Gene - Targeted Variants Analysis$440.00
Familial Episodic Pain Type 2 Syndrome via the SCN10A Gene$990.00
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene$990.00
Familial Exudative Vitreoretinopathy 1 (FEVR1) via the FZD4 Gene$580.00$690.00
Familial Exudative Vitreoretinopathy 5 (FEVR5) via the TSPAN12 Gene$680.00$690.00
Familial Focal Epilepsy with Variable Foci via the DEPDC5 Gene$990.00
Familial Gastrointestinal Stromal Tumors (GISTs) via the PDGFRA Gene$1280.00$690.00
Familial Hemiplegic Migraine 1 (FHM1) via the CACNA1A Gene$1290.00
Familial Hemiplegic Migraine 2 (FHM2) via the ATP1A2 Gene$990.00$690.00
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel$1440.00$840.00
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via the SH2D1A Gene$490.00$690.00
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via the XIAP/BIRC4 Gene$650.00$690.00
Familial Hemophagocytic Lymphohistiocytosis-Type 2 (FHL2) via the PRF1 Gene$590.00$690.00
Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3) via the UNC13D Gene$990.00$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$960.00$690.00
Familial Hypercholesterolemia Sequencing Panel$1390.00$770.00
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene$990.00$690.00
Familial Hypercholesterolemia via the LDLR Gene$990.00$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$750.00$690.00
Familial Isolated Hypoparathyroidism via the PTH Gene$370.00$690.00
Familial Isolated Pituitary Adenoma via the AIP Gene$680.00$690.00
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$750.00$690.00
Familial Limb Girdle Myasthenic Syndrome via the AGRN Gene$990.00$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$870.00$690.00
Familial Pityriasis Rubra Pilaris (PRP) via the CARD14 Gene$990.00$690.00
Familial Platelet Function Disorder via the GP6 Gene$810.00$690.00
Fanconi Anemia Sequencing Panel$1990.00$1290.00
Fanconi Anemia via the BRCA2/FANCD1 Gene$990.00$690.00
Fanconi Anemia via the BRIP1/FANCJ Gene$990.00$690.00
Fanconi Anemia via the FANCA Gene$990.00$690.00
Fanconi Anemia via the FANCC Gene$860.00$690.00
Fanconi Anemia via the FANCD2 Gene$1490.00$690.00
Fanconi Anemia via the FANCE Gene$780.00$690.00
Fanconi Anemia via the FANCF Gene$490.00$690.00
Fanconi Anemia via the FANCG Gene$840.00$690.00
Fanconi Anemia via the FANCI Gene$990.00$690.00
Fanconi Anemia via the FANCL Gene$910.00$690.00
Fanconi Anemia via the FANCM Gene$990.00$690.00
Fanconi Anemia via the PALB2/FANCN Gene$990.00$690.00
Fanconi Anemia via the RAD51C/FANCO Gene$680.00$690.00
Fanconi Anemia via the SLX4/FANCP Gene$990.00$690.00
Fanconi Anemia, X-linked, via the FANCB Gene$890.00$690.00
Fanconi-Bickel Syndrome via the SLC2A2 Gene$750.00$690.00
Farber Lipogranulomatosis via the ASAH1 Gene$840.00$690.00
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel$1440.00$1290.00
Fibrodysplasia Ossificans progressiva (FOP) via the ACVR1 Gene$840.00$690.00
Fish-Eye Disease and Norum Disease via the LCAT Gene$650.00
Floating-Harbor Syndrome via the SRCAP Gene$990.00$690.00
Focal Dermal Hypoplasia (FDH) via the PORCN Gene$870.00$690.00
Focal Epilepsy with Speech Disorder with or without Intellectual Disability via the GRIN2A Gene$990.00$690.00
Focal Segmental Glomerulosclerosis (FSGS) via the ACTN4 Gene$990.00$690.00
Focal Segmental Glomerulosclerosis (FSGS) via the ANLN Gene$990.00$690.00
Focal Segmental Glomerulosclerosis (FSGS) via the CD2AP Gene$990.00$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 the ALX3 Gene$610.00
Frontotemporal Dementia via the GRN Gene$870.00
Frontotemporal Dementia via the MAPT Gene$990.00
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
GAPO Syndrome via the ANTXR1 Gene$1100.00
GDF5-related Disorders via the GDF5 Gene$520.00$690.00
GLUT1 Deficiency Syndrome via the SLC2A1 Gene$750.00$690.00
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
Galactosemia Type I via the GALT Gene$650.00$690.00
Galactosemia Type II via the GALK1 Gene$650.00$690.00
Galactosialidosis via the CTSA Gene$990.00
Galloway-Mowat Syndrome via the WDR73 Gene$780.00
Gaucher Disease via the GBA Gene$850.00
Gelatinous Drop-Like Corneal Dystrophy (GDLD) via theTACSTD2 Gene$540.00$690.00
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$840.00$690.00
Gitelman syndrome via the SLC12A3 Gene$990.00$690.00
Glanzmann's Thrombasthenia via the ITGA2B Gene$990.00$690.00
Glanzmann's Thrombasthenia via the ITGB3 Gene$970.00$690.00
Glaucoma Sequencing Panel$1940.00$840.00
Globozoospermia via the SPATA16 Gene$780.00$690.00
Glucose Phosphate Isomerase Deficiency via the GPI Gene$1060.00$690.00
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$840.00$690.00
Glutaric Acidemia Type II via the ETFB Gene$750.00$690.00
Glutaric Acidemia Type II via the ETFDH Gene$910.00$690.00
Glutathione Synthetase Deficiency via the GSS Gene$910.00$690.00
Glycine N-Methyltransferase Deficiency via the GNMT Gene$750.00
Glycogen Storage Disease Type 0 via the Glycogen Synthase 2 (GYS2) Gene$990.00$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$990.00$690.00
Glycogen Storage Disease Type IV via the GBE1 Gene$990.00$690.00
Glycogen Storage Disease Type IX via the PHKA1 Gene$990.00$690.00
Glycogen Storage Disease Type IX via the PHKA2 Gene$990.00$690.00
Glycogen Storage Disease Type IX via the PHKB Gene$990.00$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$990.00$690.00
Glycogen Storage Disease Type VII (Tarui Disease) via the PFKM Gene$990.00$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$940.00$690.00
Gnathodiaphyseal Dysplasia via the ANO5 Gene$1090.00$690.00
Goldberg-Shprintzen megacolon Syndrome via the KIAA1279 (KIF1BP) Gene$810.00$690.00
Gracile Syndrome via the BCS1L Gene$650.00
Gray Platelet Syndrome via the NBEAL2 Gene$990.00$690.00
Griscelli Syndrome-Type 2 (GS2) via the RAB27A Gene$540.00$690.00
Gyrate Atrophy of Choroid and Retina via the OAT Gene$810.00$690.00
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 the ADNP Gene $990.00
Hemiplegic Migraine and PRRT2-Related Disorders via the PRRT2 Gene$540.00$690.00
Hemophilia A via the F8 gene$990.00$690.00
Hemophilia B via the F9 Gene$750.00$690.00
Hemophilia C via the F11 Gene$870.00$690.00
Hennekam Lymphangiectasia-Lymphedema Syndrome via the CCBE1 Gene$750.00$690.00
Hereditary Angioedema via the SERPING1 /C1NH Gene$750.00$680.00
Hereditary Breast Cancer via the CHEK2 Gene$940.00$690.00
Hereditary Breast and Ovarian Cancer BRCA1/2 Sequencing and Deletion/Duplication Panel$990.00
Hereditary Breast and Ovarian Cancer via the BARD1 Gene$890.00$690.00
Hereditary Breast and Ovarian Cancer via the RAD50 Gene$990.00$690.00
Hereditary Breast and Ovarian Cancer via the RAD51D Gene$710.00$690.00
Hereditary Coproporphyria via the CPOX Gene$780.00$690.00
Hereditary Diffuse Gastric Cancer via the CDH1 Gene$960.00$690.00
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$870.00$690.00
Hereditary Hemochromatosis via the TFR2 Gene$990.00
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel$1440.00$770.00
Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) / Osler-Weber-Rendu Disease via the ENG Gene$990.00$690.00
Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2) via the ACVRL1/ALK1 Gene$770.00$690.00
Hereditary Leiomyomatosis and Renal Cell Cancer or Fumarase Deficiency via the FH Gene$750.00$690.00
Hereditary Lymphedema via the GJC2 Gene$540.00$690.00
Hereditary Mixed Polyposis Syndrome via the GREM1 Gene$490.00$690.00
Hereditary Motor and Sensory Neuropathy IIB (HMSN2B) via the RAB7A Gene$580.00$690.00
Hereditary Multiple Osteochondromas (HMO) Sequencing Panel$1390.00$730.00
Hereditary Multiple Osteochondromas (HMO) via the EXT1 Gene$840.00$690.00
Hereditary Multiple Osteochondromas (HMO) via the EXT2 Gene$870.00$690.00
Hereditary Neuroblastoma via the ALK Gene$990.00$690.00
Hereditary Neuroblastoma via the KIF1B Gene$1990.00$690.00
Hereditary Neuroblastoma via the PHOX2B Gene$540.00$690.00
Hereditary Papillary Renal Cell Carcinoma via the MET Gene$990.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel$1490.00$1290.00
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$750.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHC Gene$730.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHD Gene$540.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the TMEM127 Gene$440.00$690.00
Hereditary Sensory Neuropathy, Type IE via the DNMT1 Gene$990.00$690.00
Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) via the NGF Gene$490.00
Hereditary Spherocytosis Type 1 via the ANK1 Gene$990.00$690.00
Hereditary Spherocytosis via the EPB42 Gene$870.00$690.00
Hereditary Spherocytosis via the SLC4A1 Gene$990.00$690.00
Hereditary Spherocytosis/Elliptocytosis via the SPTA1 Gene$990.00$690.00
Hereditary Spherocytosis/Elliptocytosis via the SPTB Gene$990.00$690.00
Hereditary Thrombocythemia via the THPO Gene$650.00$690.00
Hereditary Thrombocytopenia and Hematologic Malignancy via the ETV6 Gene$750.00$690.00
Hereditary Xerocytosis via the PIEZO1 Gene$990.00
Hermansky-Pudlak Syndrome (HPS) Sequencing Panel$1490.00$840.00
Hermansky-Pudlak Syndrome Type 1 (HPS1) via the HPS1 Gene$910.00$690.00
Hermansky-Pudlak Syndrome Type 2 (HPS2) via the AP3B1 Gene$990.00$690.00
Hermansky-Pudlak Syndrome Type 3 (HPS3) via the HPS3 Gene$990.00$690.00
Hermansky-Pudlak Syndrome Type 4 (HPS4) via the HPS4 Gene$910.00$690.00
Hermansky-Pudlak Syndrome Type 5 (HPS5) via the HPS5 Gene$990.00$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$780.00$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 the GDF1 Gene$580.00$690.00
Heterotaxy via the LEFTY2 Gene$490.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel$2140.00$1290.00
Heterotaxy, Visceral 4 (HTX4) via the ACVR2B Gene$810.00$690.00
Heterotaxy, Visceral 5 (HTX5) via the NODAL Gene$580.00$690.00
Hirschsprung Disease (HSCR) via the RET Gene$990.00$690.00
Hirschsprung Disease (Non-syndromic) Sequencing Panel$1690.00$840.00
Hirschsprung Disease 2 (HSCR2) via the EDNRB Gene$680.00$690.00
Hirschsprung Disease 3 (HSCR3) via the GDNF Gene$540.00
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$990.00$690.00
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel$1540.00$1290.00
Holoprosencephaly-11 via The CDON Gene$990.00$690.00
Holoprosencephaly-2 (Autosomal Dominant, Nonsyndromic) via the SIX3 Gene$560.00$690.00
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$730.00$690.00
Holoprosencephaly-7 (Autosomal Dominant, Nonsyndromic) via the PTCH1 Gene$1130.00$690.00
Holoprosencephaly-9 (Autosomal Dominant, Nonsyndromic) via the GLI2 Gene$990.00$690.00
Holt-Oram Syndrome (HOS) via the TBX5 Gene$710.00$690.00
Homocystinuria Sequencing Panel$1440.00$840.00
Homocystinuria via the CBS Gene$990.00$690.00
Homocystinuria, cblE Type, via the MTRR Gene$990.00$690.00
Homocystinuria, cblG Type, via the MTR Gene$990.00$690.00
Hutchinson-Gilford Progeria Syndrome (HGPS) via the LMNA Gene$610.00$690.00
Hyaline Fibromatosis Syndrome via the ANTXR2 Gene$1060.00
Hyper IgD Syndrome/Mevalonate Aciduria via the MVK Gene$780.00$690.00
Hyper IgM Syndrome via the AICDA Gene$580.00$690.00
Hyperammonemia via the CPS1 Gene$990.00$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 the CASR Gene$870.00$690.00
Hypercalcemic and Hypocalcemic Disorders via the GNA11 Gene$750.00$690.00
Hypercalciuria via the ADCY10 Gene$990.00
Hyperglycemia and Hypoglycemia via the GCK Gene$750.00$690.00
Hyperphenylalaninemia via the DNAJC12 Gene$650.00
Hyperphosphatasia with Intellectual Disability via the PIGO Gene$910.00
Hypertension and Brachydactyly Syndrome via the PDE3A Gene$1190.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the ACTN2 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the CSRP3 Gene$540.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the MYH6 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the PLN Gene$370.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the TPM1 Gene$680.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the VCL Gene$990.00$690.00
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 Related Disorders via the TNNT2 Gene$840.00$690.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene$990.00$690.00
Hypertrophic Cardiomyopathy via the MYBPC3 Gene$990.00$690.00
Hypertrophic Cardiomyopathy via the MYL2 Gene$580.00$690.00
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 the PROK2 Gene$580.00$690.00
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$780.00$690.00
Hypoparathyroidism, Sensorineural Deafness and Renal Disease (HDR) via the GATA3 Gene$680.00$690.00
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
Hypothyroidism [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational & Nonautoimmune] via the TSHR Gene$990.00$690.00
IL-12 Receptor B1 Deficiency via the IL12RB1 Gene$1220.00$690.00
Ichthyosis bullosa, Siemens via the KRT2 Gene$780.00
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 GNRH1 Gene$440.00$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 the FOXP3 Gene$870.00$690.00
Inclusion Body Myopathy and Autosomal Recessive, Early Onset Myopathy via the MYH2 Gene$1650.00$690.00
Inclusion Body Myopathy-2 (Autosomal Recessive) and Nonaka Myopathy via the GNE Gene$810.00$690.00
Increased Pain Sensitivity via the COMT Gene$610.00
Infantile Cerebellar-Retinal Degeneration the ACO2 Gene$990.00$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$990.00
Integrin Alpha 7-Related Congenital Myopathy via the ITGA7 Gene$990.00$690.00
Intellectual Disability (Syndromic and Non-Syndromic) via the UPF3B Gene$810.00$690.00
Intellectual Disability (Syndromic and Non-Syndromic) via the IQSEC2 Gene$1380.00$690.00
Intellectual Disability via the ACSL4 Gene$910.00$690.00
Intellectual Disability via the PAK3 Gene$910.00$690.00
Intellectual Disability, X-linked, Claes-Jensen Type via the KDM5C Gene$1440.00$690.00
Intrahepatic Cholestasis via the ABCB11 Gene$990.00$690.00
Intrahepatic Cholestasis via the ABCB4 Gene$990.00$690.00
Intrahepatic Cholestasis via the ATP8B1 Gene$990.00$690.00
Iron-Refractory Iron Deficiency Anemia (IRIDA) via the TMPRSS6 gene$1280.00$690.00
Isolated Foveal Hypoplasia Type 2 (FVH2) via the SLC38A8 Gene$840.00
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 Nonsyndromic Congenital Heart Defects via the ZFPM2 (FOG2) Gene$930.00$690.00
Isolated Polycystic Liver Disease (PCLD) via the PRKCSH Gene$970.00$690.00
Isolated Polycystic Liver Disease (PCLD) via the SEC63 Gene$990.00$690.00
Isovaleric Acidemia via the IVD Gene$840.00$690.00
Johanson-Blizzard Syndrome via the UBR1 Gene$990.00$690.00
Joubert Syndrome via the INPP5E Gene$810.00$690.00
Joubert Syndrome via the AHI1 Gene$990.00$690.00
Joubert Syndrome via the ARL13B Gene$710.00$690.00
Joubert Syndrome via the C5orf42 Gene$990.00$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$970.00$690.00
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene$990.00$690.00
Joubert and Meckel-Gruber Syndromes Sequencing Panel$1890.00$1290.00
Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene$990.00$690.00
Joubert and Meckel-Gruber Syndromes via the CEP290 Gene$990.00$690.00
Joubert and Meckel-Gruber Syndromes via the RPGRIP1L Gene$990.00$690.00
Junctional Epidermolysis Bullosa via the COL17A1 Gene$2110.00$690.00
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$780.00$690.00
Juvenile Paget Disease via the TNFRSF11B Gene$560.00$690.00
Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT) via the SMAD4 Gene$770.00$690.00
Juvenile Polyposis Syndrome (JPS) via the BMPR1A Gene$690.00$690.00
KLICK Syndrome via the POMP Gene$680.00
Kabuki Syndrome via the KDM6A Gene$990.00$690.00
Kabuki Syndrome via the KMT2D Gene$990.00$690.00
Kallmann Syndrome via the KAL1(ANOS1) Gene$990.00$690.00
Karyomegalic Tubulointerstitial Nephritis (KTN) via the FAN1 Gene$1100.00$690.00
Kenny-Caffey Syndrome Type 1 via the TBCE Gene$990.00$690.00
Kenny-Caffey Syndrome Type 2 via the FAM111A Gene$680.00$690.00
Keratoconus and Posterior Polymorphous Corneal Dystrophy via the VSX1 Gene$650.00$690.00
Kindler Syndrome via the FERMT1 Gene$1020.00$690.00
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 the COL18A1 Gene$1750.00$690.00
Kohlschutter-Tonz syndrome (KTS) via the ROGDI Gene$840.00$690.00
Krabbe Disease via the GALC Gene$910.00$690.00
L-2-Hydroxyglutaric Aciduria Type I via the L2HGDH Gene$940.00
L1 Syndrome via the L1CAM Gene$1220.00$690.00
LIG4 Syndrome via the LIG4 Gene$680.00
Lafora Disease via the EPM2A Gene$580.00$690.00
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$970.00$690.00
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene$990.00$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 2 (LCA2) and Retinitis Pigmentosa 20 (RP20) via the RPE65 Gene$840.00$690.00
Leber Congenital Amaurosis 4 (LCA4) via the AIPL1 Gene$580.00$690.00
Leber Congenital Amaurosis and Retinitis Pigmentosa via the CRB1 Gene$990.00$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
Legius Syndrome via the SPRED1 Gene$650.00$690.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFAF2 Gene$580.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFS1 Gene$990.00$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 the NDUFA9 Gene$910.00
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via the NDUFS7 Gene$840.00
Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene$780.00$690.00
Leukocyte Adhesion Deficiency Type 2 (LADII) via the SLC35C1 Gene$490.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel$1440.00$840.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B1 Gene$650.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B5 Gene$780.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B2 Gene$610.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B3 Gene$750.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B4 Gene$750.00$690.00
Li-Fraumeni Syndrome via the TP53 Gene$770.00$690.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene$870.00$690.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene$780.00$690.00
Limb Girdle Muscular Dystrophy Type 1F via the TNPO3 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 1G via the HNRNPDL Gene$750.00
Limb Girdle Muscular Dystrophy Type 2A via the CAPN3 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy via the DYSF Gene$990.00$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$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2W (LGMD2W) via The LIMS2 Gene$680.00$690.00
Limb Girdle Muscular Dystrophy Type 2Y via the TOR1AIP1 Gene$910.00$690.00
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 the CAV1 Gene$580.00
Lissencephaly 3 via the TUBA1A Gene$490.00$690.00
Lissencephaly with Cerebellar Hypoplasia via the RELN Gene$990.00$690.00
Loeys-Dietz Syndrome 4 via the TGFB2 Gene$710.00$690.00
Loeys-Dietz Syndrome via the TGFBR1 Gene$710.00$690.00
Loeys-Dietz Syndrome via the TGFBR2 Gene$710.00$690.00
Long QT Syndrome Sequencing Panel$1740.00$1290.00
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$990.00$690.00
Long QT Syndrome via the ANK2 Gene$990.00$690.00
Long QT Syndrome via the KCNE2 Gene$370.00$690.00
Long QT Syndrome via the KCNH2 Gene$990.00$690.00
Long QT Syndrome via the SCN4B Gene$610.00$690.00
Long QT Syndrome via the AKAP9 Gene$990.00$690.00
Long QT Syndrome via the KCNJ5 Gene$580.00$690.00
Long QT syndrome via the SNTA1 Gene$710.00$690.00
Lujan Syndrome, FG Syndrome Type 1 and Ohdo Syndrome via the MED12 Gene$1850.00$690.00
Lung Cancer Susceptibility via the EGFR Gene$990.00$690.00
Lymphedema with Hypotrichosis and Telangiectasia via the SOX18 Gene$590.00$690.00
Lymphedema-Distichiasis Syndrome via the FOXC2 Gene$560.00$690.00
Lynch Syndrome via the EPCAM Gene$780.00$690.00
Lynch Syndrome via the MLH1 Gene$990.00$690.00
Lynch Syndrome via the MSH2 Gene$990.00$690.00
Lynch Syndrome via the PMS2 Gene$960.00$690.00
Lynch Syndrome via the MLH3 Gene$1120.00$690.00
Lynch Syndrome via the MSH6 Gene$990.00$690.00
MGME1-Related Mitochondrial DNA Depletion Syndrome via the MGME1 Gene$580.00$690.00
MUTYH Associated Polyposis (MAP) Syndrome via the MUTYH Gene$790.00$690.00
Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via the RIN2 Gene$990.00$690.00
Macular Corneal Dystrophy (MCD) via the CHST6 Gene$370.00$690.00
Majeed Syndrome via the LPIN2 Gene$990.00$690.00
Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via the EFEMP1 Gene$810.00
Male Infertility via the CATSPER1 Gene$1060.00$690.00
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$990.00$690.00
Malonyl-CoA Decarboxylase Deficiency via the MLYCD Gene$680.00
Mandibulofacial Dysostosis, Guion-Almeida Type via the EFTUD2 Gene$990.00
Maple Syrup Urine Disease Sequencing Panel$1440.00$770.00
Maple Syrup Urine Disease Type IA via the BCKDHA Gene$710.00$690.00
Maple Syrup Urine Disease Type IB via the BCKDHB Gene$810.00$690.00
Maple Syrup Urine Disease Type II via the DBT Gene$890.00$690.00
Marfan Syndrome via the FBN1 Gene$990.00$690.00
Marinesco-Sjogren Syndrome via the SIL1 Gene$750.00$690.00
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$870.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the HNF1A Gene$940.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the HNF4A Gene$940.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the KLF11 Gene$680.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the PAX4 Gene$780.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the PDX1 gene$490.00$690.00
McLeod Syndrome via the XK Gene$610.00$690.00
Meckel-Gruber Syndrome / Joubert Syndrome via the TCTN2 Gene$990.00$690.00
Meckel-Gruber Syndrome via the MKS1 Gene$990.00$690.00
Meckel-Gruber syndrome via the B9D1 Gene$610.00$690.00
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 the UMOD Gene$910.00$690.00
Medulloblastoma and Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via the SUFU Gene$840.00$690.00
Meesmann Corneal Dystrophy (MCD) via the KRT12 Gene$780.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts via the HEPACAM Gene$650.00$690.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts via the MLC1 Gene$780.00$690.00
Meier-Gorlin Syndrome Sequencing Panel$1440.00$840.00
Meier-Gorlin Syndrome via the CDC6 Gene$910.00$690.00
Meier-Gorlin Syndrome via the CDT1 Gene$780.00$690.00
Meier-Gorlin Syndrome via the ORC1 Gene$990.00$690.00
Meier-Gorlin Syndrome via the ORC4 Gene$810.00$690.00
Meier-Gorlin Syndrome via the ORC6 Gene$650.00$690.00
Melanoma Predisposition via the CDK4 Gene$680.00$690.00
Melanoma Predisposition via the CDKN2A Gene$540.00$690.00
Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene$1090.00$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 (Mexican Exon 55 Mutation)$250.00$690.00
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene$990.00$690.00
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction (MSSD) via the BHLHA9 Gene$490.00
Metachromatic Leukodystrophy Sequencing Panel$1390.00$730.00
Metachromatic Leukodystrophy via the ARSA Gene$580.00$690.00
Metachromatic Leukodystrophy via the PSAP Gene$840.00$690.00
Metaphyseal Chondrodysplasia, Schmid Type (MCDS) via the COL10A1 Gene$610.00$690.00
Methionine Adenosyltransferase I/III deficiency via the MAT1A Gene$710.00
Methlymalonyl-CoA Epimerase Deficiency via the MCEE Gene$540.00
Methylmalonic Acidemia Sequencing Panel$1440.00$840.00
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 Sequencing Panel$1440.00$770.00
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$990.00$690.00
Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene$990.00
Methylmalonic Aciduria and/or Homocystinuria via the CD320 Gene$610.00
Microcephaly, Lymphedema, and Chorioretinal Dysplasia (MLCRD) / Chorioretinal Dysplasia, Microcephaly, and Mental Retardation (CDMMR) / Familial Exudative Vitreoretinopathy (FEVR) via the KIF11 Gene$990.00$690.00
Microcephaly, Seizures and Developmental Delay via the PNKP Gene$970.00$690.00
Microform Holoprosencephaly (HPE10) via the DISP1 Gene$940.00$690.00
Microphthalmia and Anophthalmia via the RAX Gene$540.00
Miller Syndrome via the DHODH Gene$750.00
Miller-Dieker Lissencephaly Syndrome via the YWHAE Gene$580.00$690.00
Milroy Disease (Lymphedema Type I) via the FLT4 Gene$990.00$690.00
Mitochondrial Combined Oxidative Phosphorylation Deficiency via the MTFMT Gene$810.00
Mitochondrial Complex I Deficiency via the NDUFA11 Gene$580.00
Mitochondrial Complex I Deficiency via the NDUFA1 Gene$490.00
Mitochondrial Complex I Deficiency via the NDUFAF1 Gene$610.00
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 NDUFB9 Gene$580.00
Mitochondrial Complex I Deficiency via the NDUFS4 Gene$650.00
Mitochondrial Complex I Deficiency via the NDUFS6 Gene$580.00
Mitochondrial Complex I Deficiency via the NDUFV1 Gene$710.00
Mitochondrial Complex I Deficiency via the NDUFV2 Gene$750.00
Mitochondrial Complex I Deficiency via the NUBPL Gene$870.00
Mitochondrial Complex III Deficiency via the CYC1 Gene$750.00
Mitochondrial Complex III Deficiency via the LYRM7 Gene$610.00
Mitochondrial Complex III Deficiency via the TTC19 Gene$870.00
Mitochondrial Complex III Deficiency via the UQCC2 Gene$580.00
Mitochondrial Complex III Deficiency via the UQCC3 Gene$440.00
Mitochondrial Complex III Deficiency via the UQCRB Gene$610.00
Mitochondrial Complex III Deficiency via the UQCRC2 Gene$970.00
Mitochondrial Complex III Deficiency via the UQCRQ Gene$440.00
Mitochondrial Complex IV Deficiency via the APOPT1 Gene$680.00
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 COX20 Gene$610.00
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 SCO1 Gene$680.00
Mitochondrial Complex IV Deficiency via the SCO2 Gene$540.00
Mitochondrial Complex V Deficiency via the ATP5A1 Gene$940.00
Mitochondrial Complex V Deficiency via the ATP5E Gene$440.00
Mitochondrial Complex V Deficiency via the ATPAF2 Gene$710.00
Mitochondrial Complex V Deficiency via the TMEM70 Gene$580.00
Mitochondrial Membrane Protein-Associated Neurodegeneration via the C19orf12 Gene$490.00
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease via the TYMP Gene$710.00$690.00
Mitochondrial Phosphate Carrier Deficiency via the SLC25A3 Gene$710.00$690.00
Mitochondrial Phosphoenolpyruvate Carboxykinase 2 Deficiency via the PCK2 Gene$870.00$690.00
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency via the HADHA Gene$990.00$690.00
Molybdenum Cofactor Deficiency via the GPHN Gene$1470.00
Monogenic Obesity via the MC4R Gene$610.00$690.00
Mosaic Variegated Aneuploidy Syndrome via the BUB1B Gene$990.00$690.00
Mosaic Variegated Aneuploidy Syndrome via the CEP57 Gene$970.00$690.00
Mowat-Wilson Syndrome via the ZEB2 Gene$990.00$690.00
Mucolipidosis Type IV via the MCOLN1 Gene$940.00
Mucolipidosis and Stuttering via the GNPTAB Gene$990.00$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$940.00$690.00
Mucopolysaccharidosis Type IIID / Sanfilippo Syndrome D via the GNS Gene$870.00$690.00
Mucopolysaccharidosis Type IVA / Morquio Type A Disease via the GALNS Gene$840.00$690.00
Mucopolysaccharidosis Type IX via the HYAL1 Gene$610.00$690.00
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 the MEN1 Gene$750.00$690.00
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 Sequencing Panel$1890.00$840.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive, via the COL9A2 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia via the COL9A3 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia via the MATN3 Gene$770.00$690.00
Multiple Epiphyseal Dysplasia, Recessive (EDM4/rMED) via the SLC26A2 Gene$650.00$690.00
Multiple Pterygium Syndrome via the CHRNG Gene$750.00$690.00
Multiple Sulfatase Deficiency / Mucosulfatidosis via the SUMF1 Gene$680.00$690.00
Myoclonus-Dystonia Syndrome via the SGCE Gene$750.00$690.00
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Myofibrillar Myopathy via the CRYAB Gene$440.00$690.00
Myofibrillar Myopathy via the DES Gene$680.00$690.00
Myofibrillar Myopathy via the FLNC Gene$990.00$690.00
Myofibrillar Myopathy via the LDB3 (ZASP) Gene$940.00$690.00
Myofibrillar Myopathy, Childhood Onset via the BAG3 Gene$680.00$690.00
Myopathy with Lactic Acidosis via the ISCU Gene$610.00
Myopathy, Congenital via the TPM3 Gene$610.00$690.00
Myotilinopathy via the MYOT Gene$680.00$690.00
Myotonia Congenita via the CLCN1 Gene$990.00
NDP-Related Vitreoretinopathies via the NDP gene$440.00$690.00
Nail-Patella Syndrome via the LMX1B Gene$680.00$690.00
Naxos Disease and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the JUP Gene$750.00$690.00
Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene$1990.00$690.00
Nemaline Myopathy 5 (Amish Nemaline Myopathy) via the TNNT1 Gene$780.00$690.00
Nemaline Myopathy 7 via the CFL2 Gene$540.00$690.00
Nemaline Myopathy 9 via the KLHL41 Gene$750.00$690.00
Nemaline Myopathy Sequencing Panel$2290.00$840.00
Nemaline Myopathy With Cores (NEM6) via the KBTBD13 Gene$580.00$690.00
Nemaline Myopathy via the KLHL40 Gene$750.00$690.00
Nemaline Myopathy NEB Triplicate Repeat Region, Exons 82-105$1440.00
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via the AVPR2 Gene$580.00$690.00
Nephrogenic Diabetes Insipidus (NDI) via the AQP2 Gene$540.00$690.00
Nephrolithiasis via the SLC26A1 Gene$680.00
Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 Gene$990.00$690.00
Nephronophthisis and Joubert Syndrome via the NPHP1 Gene$990.00$690.00
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel$1840.00$1290.00
Nephronophthisis and Senior-Loken Syndrome via the IQCB1/NPHP5 Gene$790.00$690.00
Nephronophthisis and Senior-Loken syndrome via the NPHP3 Gene$990.00$690.00
Nephronophthisis and Situs Inversus via the ANKS6 Gene$990.00
Nephronophthisis via the GLIS2 / NPHP7 Gene$610.00$690.00
Nephronophthisis via the INVS / NPHP2 Gene$940.00$690.00
Nephronophthisis via the NEK8/NPHP9 Gene$870.00$690.00
Nephronophthisis via the NPHP4 Gene$990.00$690.00
Nephronophthisis-Like Nephropathy-1 (NPHPL1) via the XPNPEP3 Gene$790.00$690.00
Nephrotic Syndrome or Palmoplantar Keratoderma and Woolly Hair via the KANK2 Gene$990.00
Nephrotic Syndrome via the EMP2 Gene$580.00$690.00
Nephrotic Syndrome via the KANK4 Gene$970.00
Netherton Syndrome via the SPINK5 Gene$990.00$690.00
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene$990.00$540.00
Neurofibromatosis Type 2 via the NF2 Gene$910.00$690.00
Neurohypophyseal Diabetes Insipidus (NDI) via the AVP Gene$580.00$690.00
Neuronal Ceroid Lipofuscinosis 1 via the PPT1 Gene$810.00$690.00
Neuronal Ceroid Lipofuscinosis 10 via the CTSD Gene$710.00$690.00
Neuronal Ceroid Lipofuscinosis 12 via the ATP13A2 Gene$990.00
Neuronal Ceroid Lipofuscinosis 13 via the CTSF Gene$780.00$690.00
Neuronal Ceroid Lipofuscinosis 14 via the KCTD7 Gene$650.00$690.00
Neuronal Ceroid Lipofuscinosis 2 via the TPP1 Gene$840.00$690.00
Neuronal Ceroid Lipofuscinosis 3 via the CLN3 Gene$990.00$690.00
Neuronal Ceroid Lipofuscinosis 5 via the CLN5 Gene$580.00$690.00
Neuronal Ceroid Lipofuscinosis 6 via the CLN6 Gene$710.00$690.00
Neuronal Ceroid Lipofuscinosis 7 via the MFSD8 Gene$990.00$690.00
Neuronal Ceroid Lipofuscinosis 8 via the CLN8 Gene$580.00$690.00
Neutral Lipid Storage Disease with Myopathy via the PNPLA2 Gene$820.00$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$990.00$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 the NBN Gene$990.00$690.00
Non-Syndromic Autosomal Recessive Intellectual Disability via the TUSC3 Gene$750.00$690.00
Non-Syndromic Monogenic Obesity via the LEP Gene$490.00$690.00
Non-Syndromic Monogenic Obesity via the LEPR Gene$990.00$690.00
Non-syndromic Autosomal Recessive Intellectual Diasbility via the TRAPPC9 Gene$1220.00$690.00
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00
Noonan Syndrome via the LZTR1 Gene$990.00
Noonan Syndrome via the NRAS Gene$490.00$690.00
Noonan Syndrome via the RIT1 Gene$680.00
Noonan Syndrome via the SOS1 Gene$990.00$690.00
Noonan Syndrome via the SOS2 Gene$990.00
Noonan-Like Syndrome with Loose Anagen Hair via the SHOC2 Gene$710.00$690.00
Ocular Albinism (OA1) via the GPR143 Gene$810.00
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$990.00$690.00
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene$680.00$690.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Gene$990.00$690.00
Oculocutaneous Albinism Type 3 (OCAIII) via the TYRP1 Gene$750.00
Oculocutaneous Albinism Type 4 (OCAIV) via the SLC45A2 Gene$780.00
Oculocutaneous Albinism Type 6 (OCAVI) via the SLC24A5 Gene$750.00
Oculocutaneous Albinism Type 7 (OCAVII) via the C10orf11 Gene$610.00
Oculofaciocardiodental Syndrome and Lenz Microphthalmia Syndrome via the BCOR Gene$990.00$690.00
Oguchi Disease and Retinitis Pigmentosa (RP47) via the SAG Gene$910.00$690.00
Oligodontia-Colorectal Cancer via the AXIN2 Gene$840.00$690.00
Omenn Syndrome Sequencing Panel$1390.00$840.00
Oocyte Maturation Defect (OOMD) via the ZP1 Gene$940.00$690.00
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$990.00$690.00
Orotic Aciduria via the UMPS Gene$750.00$690.00
Osteogenesis Imperfecta via the TMEM38B Gene$650.00
Osteogenesis Imperfecta via the BMP1 Gene$1130.00
Osteogenesis Imperfecta via the COL1A1 Gene$990.00
Osteogenesis Imperfecta via the COL1A2 Gene$990.00
Osteogenesis Imperfecta via the CRTAP Gene$710.00
Osteogenesis Imperfecta via the FKBP10 Gene$840.00
Osteogenesis Imperfecta via the IFITM5 Gene$440.00
Osteogenesis Imperfecta via the P3H1 / LEPRE1 Gene$870.00
Osteogenesis Imperfecta via the SERPINF1 Gene$680.00
Osteogenesis Imperfecta via the SERPINH1 Gene$650.00
Osteogenesis Imperfecta via the SP7 Gene$610.00
Osteogenesis Imperfecta via the WNT1 Gene$580.00
Osteogenesis Imperfecta-Bruck Syndrome Type II via the PLOD2 Gene$1190.00
Osteopetrosis via the CA2 Gene$810.00$690.00
Osteopetrosis via the CLCN7 Gene$1250.00$690.00
Osteopetrosis via the SNX10 Gene$650.00
Osteopetrosis via the TCIRG1 Gene$1100.00
Osteopetrosis via the TNFSF11 Gene$540.00
Osteopetrosis via the OSTM1 Gene$610.00
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene$990.00$690.00
Ovarian Cancer and Rhabdoid Tumor Predisposition Syndrome via the SMARCA4 Gene$990.00$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 the POR Gene$910.00$690.00
PTEN Hamartoma Tumor Syndrome via the PTEN Gene$810.00$690.00
Paget Disease of Bone (PDB) Sanger Sequencing Panel$1600.00$730.00
Paget Disease of Bone via the SQSTM1 Gene$810.00$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 the KRT9 Gene$910.00$690.00
Pantothenate Kinase-Associated Neurodegeneration (PKAN, Hallervorden-Spatz Disease) via the PANK2 Gene$810.00
Papillon-Lefevre Syndrome (PLS) via the CTSC Gene$770.00$690.00
Paris-Trousseau Thrombocytopenia via the FLI1 Gene$810.00
Parkinson's Disease, Early Onset via the PARK7 Gene$650.00$690.00
Parkinson's Disease, Early Onset via the PINK1 Gene$780.00$690.00
Parkinson's Disease, Juvenile via the PARK2 Gene$840.00$690.00
Paroxysmal Nonkinesigenic Dyskinesia (DYT8) via the PNKD Gene$710.00$690.00
Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene$1080.00$690.00
Pediatric Granulomatous Arthritis via the NOD2 Gene$990.00
Peeling Skin Syndrome via the TGM5 Gene$870.00$690.00
Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via the LBR Gene$870.00$690.00
Pendred Syndrome and Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct (DFNB4) via the FOXI1 Gene$580.00
Pendred Syndrome and Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct (DFNB4) via the KCNJ10 Gene$540.00$690.00
Pendred Syndrome and Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct (DFNB4) via the SLC26A4 Gene$990.00$690.00
Peripheral Neuropathies via the HINT1 Gene$490.00$690.00
Periventricular Heterotopia with Microcephaly via the ARFGEF2 Gene$990.00$690.00
Perlman Syndrome via the DIS3L2 Gene$1220.00$690.00
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
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 PEX13 Gene$580.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX14 Gene$710.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX16 Gene$810.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX19 Gene$650.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX1 Gene$990.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX26 Gene$610.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX2 Gene$490.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX3 Gene$810.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene$940.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX6 Gene$970.00$690.00
Perrault Syndrome Type 1 via the HSD17B4 Gene$990.00$690.00
Perrault Syndrome Type 2 via the HARS2 Gene$780.00$690.00
Perrault Syndrome Type 3 and Deafness, Autosomal Recessive 8 (DFNB8) via the CLPP Gene$650.00$690.00
Perrault Syndrome Type 4 via the LARS2 Gene$1160.00$690.00
Peters Plus Syndrome via the B3GALTL/B3GLCT Gene$1060.00$690.00
Peutz-Jeghers Syndrome via the STK11 Gene$710.00$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$810.00$690.00
Piebaldism and Familial Gastrointestinal Stromal Tumors (GISTs) via the KIT Gene$990.00$690.00
Pierson Syndrome and Congenital Nephrotic Syndrome via the LAMB2 Gene$990.00$690.00
Pitt-Hopkins Syndrome via the TCF4 Gene$1100.00$690.00
Plectinopathy via the PLEC Gene$2420.00$690.00
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via the FAM111B Gene$810.00
Polyglucosan Body Myopathy Type I, with or without Immunodeficiency, via the RBCK1 Gene$940.00
Pontocerebellar Hypoplasia Type 1A via the VRK1 Gene$840.00$690.00
Pontocerebellar Hypoplasia Type 1B via the EXOSC3 Gene$580.00
Pontocerebellar Hypoplasia Type 2 and Type 4 via the TSEN2 Gene$810.00$690.00
Pontocerebellar Hypoplasia Type 2 and Type 4 via the TSEN34 Gene$520.00$690.00
Pontocerebellar Hypoplasia Type 2, Type 4 and Type 5 via the TSEN54 Gene$830.00$690.00
Pontocerebellar Hypoplasia Type 6 via the RARS2 Gene$1130.00$690.00
Popliteal Pterygium Syndrome 2, Lethal Type via the RIPK4 Gene$810.00$690.00
Porphyria Cutanea Tarda Type II/Hepatoerythropoietic Porphyria via the UROD Gene$680.00$690.00
Posterior Microphthalmia via the PRSS56 Gene$780.00
Premature Ovarian Failure via the MCM8 Gene$1100.00
Primary Ciliary Dyskinesia (PCD) via the C21ORF59 Gene$680.00
Primary Ciliary Dyskinesia (PCD) via the CCDC103 Gene$490.00
Primary Ciliary Dyskinesia (PCD) via the CCDC114 Gene$870.00
Primary Ciliary Dyskinesia (PCD) via the CCDC151 Gene$870.00
Primary Ciliary Dyskinesia (PCD) via the CCDC39 Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD) via the CCDC40 Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD) via the CCNO Gene$580.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF1 / LRRC50 Gene$840.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF2 Gene$750.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF5 (HEATR2) Gene$970.00
Primary Ciliary Dyskinesia (PCD) via the DNAH11 Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAH5 Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAH8 Gene$990.00
Primary Ciliary Dyskinesia (PCD) via the DNAI1 Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAI2 Gene$810.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAL1 Gene$690.00$690.00
Primary Ciliary Dyskinesia (PCD) via the LRRC6 Gene$910.00
Primary Ciliary Dyskinesia (PCD) via the NME8 (TXNDC3) Gene$890.00$690.00
Primary Ciliary Dyskinesia (PCD) via the RPGR Gene$1090.00$690.00
Primary Ciliary Dyskinesia (PCD) via the RSPH4A Gene$690.00$690.00
Primary Ciliary Dyskinesia (PCD) via the RSPH9 Gene$540.00$690.00
Primary Ciliary Dyskinesia (PCD) via the SPAG1 Gene$990.00
Primary Ciliary Dyskinesia (PCD) via the ZMYND10 Gene$750.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel$1990.00$1290.00
Primary Ciliary Dyskinesia via the DNAAF3 Gene$870.00$690.00
Primary Congenital Glaucoma via the CYP1B1 Gene$650.00$690.00
Primary Congenital Glaucoma via the LTBP2 Gene$990.00$690.00
Primary Familial and Congenital Polycythemia (PFCP) via the EPOR Gene$750.00$690.00
Primary Hyperoxaluria Type 1 via the AGXT Gene$810.00$690.00
Primary Hyperoxaluria Type 3 via the HOGA1 Gene$710.00
Primary Hyperoxaluria type 2 via the GRHPR Gene$710.00$690.00
Primary Immunodeficiency via the IRAK4 Gene$910.00$690.00
Primary Immunodeficiency via the PIK3CD gene$1310.00
Primary Macronodular Adrenal Hyperplasia via the ARMC5 Gene$910.00
Primary Microcephaly, Autosomal Recessive, Sanger Sequencing Panel$8340.00$840.00
Primary Microcephaly, Autosomal Recessive, via the ASPM Gene$2170.00$690.00
Primary Microcephaly, Autosomal Recessive, via the CDK5RAP2 Gene$1750.00$690.00
Primary Microcephaly, Autosomal Recessive, via the CEP152 Gene$1490.00$690.00
Primary Microcephaly, Autosomal Recessive, via the MCPH1 Gene$780.00$690.00
Primary Microcephaly, Autosomal Recessive, via the STIL Gene$1130.00$690.00
Primary Microcephaly, Autosomal Recessive, via the WDR62 Gene$1430.00$690.00
Primary Open Angle Glaucoma via the MYOC Gene$780.00$690.00
Primary Pigmented Nodular Adrenocortical Disease via the PDE11A Gene$1250.00
Primordial Dwarfism via the LARP7 Gene$1060.00
Primordial Dwarfism via the POC1A Gene$780.00
Primordial Dwarfism via the XRCC4 Gene$750.00
Progressive Familial Heart Block via the TRPM4 Gene$990.00
Progressive Myoclonic Epilepsy via the GOSR2 Gene$650.00$690.00
Progressive Myoclonic Epilepsy, With or Without Renal Failure, via the SCARB2 Gene$870.00$690.00
Propionic Acidemia Sequencing Panel$1440.00$730.00
Propionic Acidemia via the PCCA Gene$990.00$690.00
Propionic Acidemia via the PCCB Gene$840.00$690.00
Protein C Deficiency via the PROC Gene$710.00$690.00
Protein S Deficiency via the PROS1 Gene$910.00$690.00
Prothrombin/Factor II Deficiency via the F2 Gene$990.00$690.00
Proximal Renal Tubular Acidosis with Ocular Abnormalities via the SLC4A4 Gene$990.00
Pseudohypoaldosteronism Type II Sequencing Panel$1490.00$840.00
Pseudohypoaldosteronism Type II via the CUL3 Gene$990.00$690.00
Pseudohypoaldosteronism Type II via the KLHL3 Gene$940.00$690.00
Pseudohypoaldosteronism Type II via the WNK1 Gene$990.00$690.00
Pseudohypoaldosteronism Type II via the WNK4 Gene$990.00$690.00
Pterin-4 alpha-Carbinolamine Dehydratase (PCD) Deficiency via the PCBD1 Gene$490.00$690.00
Pulmonary Arterial Hypertension (PAH) via the BMPR2 Gene$1130.00$690.00
Pulmonary Fibrosis Syndrome via the SFTPA2 Gene$690.00
Pyridoxine 5'-Phosphate Oxidase Deficiency via the PNPO Gene$680.00$690.00
Pyridoxine-Dependent Epilepsy via the ALDH7A1 Gene$990.00$690.00
Pyruvate Carboxylase Deficiency via the PC Gene$990.00$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 the PDHX Gene$990.00$690.00
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency via the LIAS Gene$840.00$690.00
Pyruvate Dehydrogenase Phosphatase Deficiency via the PDP1 Gene$580.00$690.00
Pyruvate Kinase Deficiency with Hemolytic Anemia via the PKLR Gene$840.00$690.00
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene$990.00$690.00
Rapsyn-Related Disorders via the RAPSN Gene$610.00$690.00
Refsum Disease via the PHYH Gene$840.00$690.00
Renal Coloboma Syndrome and Isolated Renal Hypoplasia via the PAX2 Gene$780.00$690.00
Renal Cysts and Diabetes Syndrome via the HNF1B Gene$780.00$690.00
Renal Hypodysplasia (RHD) via the SIX2 Gene$490.00$690.00
Renal Hypomagnesemia 3 via the CLDN16 Gene$580.00$690.00
Renal Hypomagnesemia 5 via the CLDN19 Gene$540.00$690.00
Renal Hypouricemia Type 2 via the SLC2A9 Gene$940.00
Renpenning Syndrome via the PQBP1 Gene$680.00$690.00
Restrictive Dermopathy and Mandibuloacral Dysplasia with Type B Lipodystrophy via the ZMPSTE24 Gene$710.00$690.00
Retinitis Pigmentosa 35 (RP35) and Cone-Rod Dystrophy 10 (CORD10) via the SEMA4A Gene$940.00$690.00
Retinitis Pigmentosa 38 (RP38) via the MERTK Gene$1220.00$690.00
Retinitis Pigmentosa 58 (RP58) via the ZNF513 Gene$650.00
Retinitis Pigmentosa 7 via the ROM1 Gene$540.00$690.00
Retinitis Pigmentosa via the CNGA1 Gene$750.00$690.00
Retinitis Pigmentosa via the CNGB1 Gene1,340.00
Retinitis Pigmentosa via the IMPDH1 Gene$910.00$690.00
Retinitis Pigmentosa via the NR2E3 Gene$650.00$690.00
Retinitis Pigmentosa via the PDE6A Gene$990.00$690.00
Retinitis Pigmentosa via the PRPF3 Gene$870.00$690.00
Retinitis Pigmentosa via the PRPF31 Gene$810.00$690.00
Retinitis Pigmentosa via the PRPF8 Gene$1750.00$690.00
Retinitis Pigmentosa via the PRPH2 (RDS) Gene$490.00$690.00
Retinitis Pigmentosa via the RP1 Gene$990.00$690.00
Retinoblastoma via the RB1 Gene$990.00$690.00
Rett Syndrome via the MECP2 Gene$750.00$690.00
Rhabdoid Tumor Predisposition Syndrome via the SMARCB1 Gene$810.00$690.00
Rhizomelic Chondrodysplasia Punctata Type 1 and Adult Refsum Disease via the PEX7 Gene$780.00$690.00
Rhizomelic Chondrodysplasia Punctata Type 2 via the GNPAT Gene$990.00$690.00
Rhizomelic Chondrodysplasia Punctata Type 3 via the AGPS Gene$990.00$690.00
Roberts Syndrome via the ESCO2 Gene$830.00$690.00
Robinow Syndrome and Autosomal Recessive Brachydactyly, Type B1 via the ROR2 Gene$810.00$690.00
Rothmund Thomson Syndrome via the RECQL4 Gene$990.00$690.00
Rotor Syndrome Sanger Sequencing Panel$2070.00$730.00
Rotor Syndrome via the SLCO1B1 Gene$1100.00$690.00
Rotor Syndrome via the SLCO1B3 Gene$970.00$690.00
Rubinstein-Taybi Syndrome via the CREBBP Gene$990.00$690.00
Rubinstein-Taybi Syndrome via the EP300 Gene$990.00$690.00
S-Adenosylhomocysteine Hydrolase Deficiency via the AHCY Gene$940.00
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$990.00$690.00
Schnyder Crystalline Corneal Dystrophy (SCCD) via the UBIAD1 Gene$580.00$690.00
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via the ATR Gene$2450.00$690.00
Seipin-Related Disorders via the BSCL2 Gene$780.00$690.00
Seizures, Cortical Blindness, Microcephaly Syndrome and Deafness, Autosomal Dominant 1 (DFNA1) via the DIAPH1 Gene$1090.00$690.00
Selenoprotein N, 1 via the SELENON/SEPN1 Gene$860.00$690.00
Sengers Syndrome via the AGK Gene$990.00$690.00
Sepiapterin Reductase (SR) Deficiency via the SPR Gene$540.00
Severe Combined Immunodeficiency/Omenn Syndrome via the DCLRE1C (ARTEMIS) Gene$990.00$690.00
Severe Combined Immunodeficiency/Omenn Syndrome via the IL7R Gene$780.00$690.00
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG1 Gene$750.00$690.00
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG2 Gene$580.00$690.00
Severe Congenital Neutropenia (Dursun Syndrome) via the G6PC3 Gene$610.00$690.00
Severe Congenital Neutropenia (Kostmann Disease) via the HAX1 gene$560.00$690.00
Severe Congenital Neutropenia Sequencing Panel$1440.00$840.00
Severe Congenital Neutropenia and Cyclic Neutropenia via the ELANE Gene$560.00$690.00
Severe Congenital Neutropenia and Neutrophilia via the CSF3R Gene$990.00$690.00
Severe Congenital Neutropenia via the GFI1 gene$670.00$690.00
Severe Congenital Neutropenia via the VPS45 Gene$970.00
Severe MTHFR Deficiency via the MTHFR Gene$780.00$690.00
Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS Gene$730.00$690.00
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$780.00$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$960.00$690.00
Simpson-Golabi-Behmel Syndrome via the GPC3 Gene$680.00$690.00
Sitosterolemia via the ABCG5 Gene$870.00
Sitosterolemia via the ABCG8 Gene$940.00
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 the TBX4 Gene$680.00$690.00
Smith-Lemli-Opitz Syndrome via the DHCR7 Gene$710.00$690.00
Smith-Magenis and Potocki-Lupski syndromes via the RAI1 Gene$1020.00$690.00
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$990.00$690.00
Sorsby Fundus Dystrophy via the TIMP3 Gene$540.00$690.00
Sotos Syndrome via the NSD1 Gene$990.00$690.00
Spastic Paraplegia 11 via the SPG11 Gene$1590.00
Spastic Paraplegia 13 via the HSPD1 Gene$840.00
Spastic Paraplegia 21 (Mast Syndrome) via the SPG21(ACP33) Gene$750.00
Spastic Paraplegia 28 via the DDHD1 Gene$1220.00
Spastic Paraplegia 35 via the FA2H Gene$710.00
Spastic Paraplegia 3A via the ATL1 Gene$970.00
Spastic Paraplegia 4 via the SPAST Gene$1100.00
Spastic Paraplegia 52 via the AP4S1 Gene$610.00
Spastic Paraplegia 53 via the VPS37A Gene$870.00
Spastic Paraplegia 58 via the KIF1C Gene$1310.00
Spastic Paraplegia 59 via the USP8 Gene$1220.00
Spastic Paraplegia 5A via the CYP7B1 Gene$710.00
Spastic Paraplegia 6 via the NIPA1 Gene$610.00
Spastic Paraplegia 61 via the ARL6IP1 Gene$680.00
Spastic Paraplegia 72 via the REEP2 Gene$680.00
Spastic Paraplegia 8 via the WASHC5/KIAA0196 Gene$1470.00
Spinal Muscular Atrophy with Respiratory Distress Type 1 via the IGHMBP2 Gene$910.00$690.00
Spinal Muscular Atrophy, Autosomal Dominant, Adult-Onset and Amyotrophic Lateral Sclerosis-8 via the VAPB Gene$580.00$690.00
Spinocerebellar Ataxia 21 via the TMEM240 Gene$680.00
Spinocerebellar Ataxia, Autosomal Recessive-8 (French Canadian Mutation Sanger Sequencing Panel)$650.00$690.00
Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146$990.00$690.00
Spinocerebellar Ataxia-12 via the WWOX Gene$780.00
Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via the DDR2 Gene$930.00$690.00
Spondylocostal Dysostosis Sequencing Panel$1590.00$770.00
Spondylocostal Dysostosis and Spondylothoracic Dysostosis via the MESP2 Gene$540.00$690.00
Spondylocostal Dysostosis via the DLL3 Gene$680.00$690.00
Spondylocostal Dysostosis via the HES7 Gene$650.00
Spondylocostal Dysostosis via the LFNG Gene$670.00$690.00
Spondylocostal Dysostosis via the TBX6 Gene$750.00
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$1290.00$690.00
Steroid-Resistant Nephrotic Syndrome (SRNS) via the PLCE1 Gene$990.00$690.00
Steroid-Resistant Nephrotic Syndrome (SRNS)/ Focal Segmental Glomerulosclerosis (FSGS) via the TRPC6 Gene$940.00$690.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ2 Gene$680.00$690.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ6 Gene$840.00$690.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ8B/ADCK4 Gene$940.00$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 Sequencing Panel$1840.00$840.00
Stickler Syndrome Type II, Marshall Syndrome, and Fibrochondrogenesis via the COL11A1 Gene$990.00$690.00
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene$990.00$690.00
Stuttering Sequencing Panel$1440.00$770.00
Stuttering via the NAGPA Gene$710.00$690.00
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via the OXCT1 Gene$990.00$690.00
Sulfite Oxidase Deficiency via the SUOX gene$680.00
Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene$990.00$690.00
Surfactant Protein B Deficiency via the SFTPB Gene$810.00$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 PURA Gene$680.00
Syndromic Intellectual Disability/Autism Spectrum Disorder via the DYRK1A Gene$990.00$690.00
Syndromic Microphthalmia via the OTX2 Gene$490.00$690.00
Systemic Primary Carnitine Deficiency via the SLC22A5 Gene$780.00$690.00
TNF-Receptor Associated Periodic Syndrome (TRAPS) via the TNFRSF1A Gene$680.00$690.00
TREM2-Related Disorders via the TREM2 Gene$580.00
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 the KCNH1 Gene$1100.00
Thanatophoric Dysplasia (TD) via the FGFR3 Gene$520.00$690.00
Thiamine Responsive Megaloblastic Anemia via the SLC19A2 Gene$650.00
Thiopurine S-Methyltransferase (TPMT) Deficiency via the TPMT Gene$750.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the ACTA2 gene$650.00$690.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the MYH11 gene$990.00$690.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the MYLK Gene$990.00$690.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the SMAD3 gene$780.00$690.00
Thrombocytopenia and Predisposition to Myeloid Malignancies via the ANKRD26 Gene$990.00$690.00
Thrombocytopenia via the CYCS Gene$370.00
Thrombocytopenia via the GATA1 Gene$560.00$690.00
Thrombocytopenia via the MASTL Gene$890.00$690.00
Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via the RUNX1 Gene$680.00$690.00
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene$540.00
Thrombotic Thrombocytopenic Purpura (TTP) via the ADAMTS13 Gene$990.00$690.00
Thromboxane A2 Receptor Deficiency via the TBXA2R Gene$580.00$690.00
Thyroid Hormone Resistance via the THRB Gene$710.00$690.00
Timothy Syndrome and Brugada Syndrome via the CACNA1C Gene$990.00$690.00
Tooth Agenesis via the PAX9 Gene$610.00$690.00
Townes-Brocks Syndrome via the SALL1 Gene$890.00$690.00
Transcobalamin II Deficiency via the TCN2 Gene$940.00
Treacher Collins Syndrome via the POLR1C Gene$710.00
Treacher Collins Syndrome via the POLR1D Gene$440.00
Treacher Collins Syndrome via the TCOF1 Gene$990.00
Tricho-rhino-phalangeal Syndrome Types I & III via the TRPS1 Gene$860.00$690.00
Trimethylaminuria via the FMO3 Gene$710.00$690.00
Triosephosphate Isomerase Deficiency via the TPI1 Gene$680.00$690.00
Tropomyosin 2-Related Disorders via the TPM2 Gene$610.00$690.00
Tuberous Sclerosis Complex via the TSC1 Gene$990.00$540.00
Tuberous Sclerosis Complex via the TSC2 Gene$990.00$540.00
Tubular Aggregate Myopathy via the STIM1 Gene$840.00$690.00
Tumor Predisposition Syndrome, Uveal Melanoma and Mesothelioma via the BAP1 Gene$970.00$690.00
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via the SCN4A Gene$990.00$690.00
Type VI Collagenopathy via the COL6A1 Gene$990.00$690.00
Type VI Collagenopathy via the COL6A2 Gene$990.00$690.00
Type VI Collagenopathy via the COL6A3 Gene$990.00$690.00
Type VI-Related Collagenopathy Sequencing Panel$1490.00$840.00
Type VI-Related Collagenopathy via the COL12A1 Gene$990.00$690.00
Tyrosinemia Type III and Hawkinsinuria via the HPD Gene$750.00$690.00
Tyrosinemia, Type I via the FAH Gene$580.00$690.00
Tyrosinemia, Type II via the TAT Gene$780.00$690.00
Ulnar-Mammary Syndrome via the TBX3 Gene$750.00$690.00
Urofacial Syndrome 1 via the HPSE2 Gene$970.00
Urofacial Syndrome 2 via the LRIG2 Gene$1100.00
Usher Syndrome Sequencing Panel$1590.00$1290.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 12 (DFNB12) via the CDH23 Gene$990.00$690.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 18 (DFNB18) via the USH1C Gene$990.00$690.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 23 (DFNB23) via the PCDH15 Gene$1190.00$690.00
Usher Syndrome Type 1 via the USH1G Gene$580.00$690.00
Usher Syndrome Type 1, Deafness, Autosomal Dominant 11 (DFNA11) and Deafness, Autosomal Recessive 2 (DFNB2) via the MYO7A Gene$990.00$690.00
Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene$870.00$690.00
Usher Syndrome Type 2 via the ADGRV1 (GPR98) Gene$990.00$690.00
Usher Syndrome Type 2 via the USH2A Gene$1190.00$690.00
Usher Syndrome Type 2C and Deafness, Autosomal Recessive 57 (DFNB57) via the PDZD7 Gene$990.00$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 the CIB2 Gene$710.00$690.00
Valosin-Containing Protein-Related Disorders via the VCP Gene$990.00$690.00
Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via the DCHS1 Gene$1900.00
Van der Woude Syndrome (VWS) via the GRHL3 Gene$970.00
Variegate Porphyria via the PPOX Gene$910.00$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
Von Hippel-Lindau Disease via the VHL Gene$520.00$690.00
Waardenburg Syndrome Sequencing Panel$1290.00$840.00
Waardenburg Syndrome Type IIA via the MITF Gene$780.00$690.00
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$990.00$690.00
Walker-Warburg Syndrome via the B3GNT1(B4GAT1) Gene$540.00$690.00
Walker-Warburg Syndrome via the POMGNT1 Gene$660.00$690.00
Walker-Warburg Syndrome via the POMT1 Gene$920.00$690.00
Walker-Warburg Syndrome via the POMT2 Gene$990.00$690.00
Walker-Warburg Syndrome via the TMEM5 Gene$610.00$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$770.00$690.00
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome via the CXCR4 Gene$610.00$690.00
Weaver Syndrome via the EZH2 Gene$1090.00$690.00
Welander Distal Myopathy via the TIA1 Gene$940.00
Werner Syndrome via the WRN Gene$990.00$690.00
Wieacker-Wolff Syndrome via the ZC4H2 Gene$610.00$690.00
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 Sanger Sequencing Panel$1310.00$730.00
Wolfram Syndrome Type 2 via the CISD2 Gene$440.00$690.00
Wolman Disease and Cholesteryl Ester Storage Disease via the LIPA Gene$680.00$690.00
Woodhouse-Sakati Syndrome via the DCAF17 Gene$1100.00
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 Spondyloepiphyseal Dysplasia Tarda (SEDT) via the TRAPPC2 Gene$520.00$690.00
X-linked Agammaglobulinemia via the BTK Gene$1100.00$690.00
X-linked Heterotaxy (HTX1) via the ZIC3 Gene$590.00$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 Lissencephaly-2 via the ARX Gene$650.00$690.00
X-linked Megalocornea 1 (MGC1) via the CHRDL1 Gene$810.00$690.00
X-linked Nance-Horan Syndrome and Congenital Cataract via the NHS Gene$990.00$690.00
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel$1740.00$840.00
X-linked Retinitis Pigmentosa (XLRP) via the RP2 Gene$590.00$690.00
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 the ALAS2 Gene$1020.00$690.00
Xanthinuria Type I via the XDH Gene$990.00$690.00
Xeroderma Pigmentosum Sequencing Panel$1890.00$840.00
Xeroderma Pigmentosum via the DDB2 Gene$710.00$690.00
Xeroderma Pigmentosum via the ERCC2 Gene$990.00$690.00
Xeroderma Pigmentosum via the ERCC3 Gene$970.00$690.00
Xeroderma Pigmentosum via the ERCC4 Gene$840.00$690.00
Xeroderma Pigmentosum via the ERCC5 Gene$990.00$690.00
Xeroderma Pigmentosum via the POLH Gene$840.00$690.00
Xeroderma Pigmentosum via the XPA Gene$680.00$690.00
Xeroderma Pigmentosum via the XPC Gene$970.00$690.00
von Willebrand Disease Types 1, 2, and 3 via the VWF Gene$1290.00$690.00

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Sanger

Available Test Methods

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