SEARCH RESULTS

Test Descriptions Found:

699

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NextGen

Test Available Sequencing Del/Dup Other
β-Mannosidase Deficiency via the MANBA Gene$1590.00$690.00
'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-M Syndrome via the CUL7 Gene$990.00$690.00
3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel$1440.00$730.00
ABCC8-Related Congenital Hyperinsulinism via the ABCC8 Gene$990.00$690.00
C12orf65-Associated Optic Atrophy via the C12orf65 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
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
COMP-Related Disorders via the COMP Gene$990.00$690.00
FGFR2-Related Disorders via the FGFR2 Gene$990.00$690.00
FLNB-Related Disorders via the FLNB Gene$990.00$690.00
GLE1-Related Disorders via the GLE1 Gene$990.00$690.00
HCFC1-Related Disorders via the HCFC1 Gene$990.00
KARS-Related Disorders via the KARS Gene$990.00$690.00
KAT6B-Related Disorders via the KAT6B Gene$990.00$690.00
KIF1A-Related Disorders via the KIF1A Gene$990.00
MYH3-Related Distal Arthrogryposis via the MYH3 Gene$990.00$690.00
MYH9-Related Disorders via the MYH9 Gene$990.00$690.00
NOTCH2-Related Disorders via the NOTCH2 Gene$990.00$690.00
OFD1-Related Disorders via the OFD1 Gene$990.00$690.00
PDE6B Related Disorders via the PDE6B Gene$990.00$690.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00
RYR1-Related Congenital Myopathies via the RYR1 Gene$1190.00$690.00
SLC25A13-Related Disorders via the SLC25A13 Gene$990.00$690.00
Achromatopsia (ACHM) Sequencing Panel$1440.00$840.00
Achromatopsia via the PDE6C Gene$990.00$690.00
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene$990.00$690.00
Acute/Neurovisceral Porphyria Sequencing Panel$1390.00$770.00
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene$990.00$690.00
Adams-Oliver Syndrome via the DOCK6 Gene$990.00
Aicardi-Goutiéres Syndrome 5 via the SAMHD1 Gene$990.00$690.00
Aicardi-Goutières Syndrome 4 via the RNASEH2A Gene$990.00$690.00
Aicardi-Goutières Syndrome 7 and Singleton-Merton Syndrome 1 via the IFIH1 Gene$990.00
Aicardi-Goutières Syndrome Sequencing Panel$1450.00$840.00
Alagille Syndrome Sequencing Panel$1440.00$730.00
Alagille Syndrome-1 via the JAG1 Gene$990.00$690.00
Alport Syndrome (AS) Sequencing Panel$1540.00$840.00
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
Alzheimer Disease, Familial or Cerebral Amyloid Angiopathy via the APP Gene$990.00$690.00
Alzheimer Disease, Familial, Sequencing Panel$990.00$770.00
Amelogenesis Imperfecta Sequencing Panel$1740.00$1290.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel$1540.00$1290.00
Andermann Syndrome via the SLC12A6 Gene$990.00
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00
Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 Gene$990.00$690.00
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
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
Ataxia telangiectasia Syndrome via the ATM Gene$990.00$690.00
Ataxia with Oculomotor Apraxia Sequencing Panel$1440.00$770.00
Ataxia-telangiectasia-like disorder via the MRE11/MRE11A Gene$990.00$690.00
Atrial Fibrillation Syndrome via the KCNE5 Gene$990.00
Atrial Fibrillation via the SCN2B Gene$990.00
Autism Spectrum Disorders and Intellectual Disability (ASD-ID) Comprehensive Panel$2490.00
Autism Spectrum Disorders via the CHD8 Gene$1590.00
Autism Spectrum Disorders via the DSCAM Gene$1590.00
Autism Spectrum Disorders via the TRIP12 Gene$1590.00
Autism Spectrum Disorders/Intellectual Disability via the ASH1L Gene$1590.00
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 Nocturnal Frontal Lobe Epilepsy via the CHRNA4 Gene$990.00
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 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 via the DNA2 Gene$990.00$690.00
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel$1840.00$1290.00
Autosomal Dominant Retinitis Pigmentosa via the PRPF6 Gene$1590.00
Autosomal Dominant Retinitis Pigmentosa via the SNRNP200 Gene$1590.00
Autosomal Dominant and Recessive Polycystic Kidney Disease Sequencing Panel$2290.00$990.00
Autosomal Recessive Hyper IgE Syndrome via the DOCK8 Gene$990.00$690.00
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Autosomal Recessive Polycystic Kidney Disease via the PKHD1 Gene$990.00$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 Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Autosomal Recessive Retinitis Pigmentosa via the EYS Gene$990.00
Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene$990.00$690.00
Autosomal-Recessive Intellectual Disability via the NRXN1 Gene$990.00$690.00
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Bardet-Biedl Syndrome Sequencing Panel$1690.00$1290.00
Bardet-Biedl Syndrome via the BBS9 Gene$990.00$690.00
Bartter Syndrome Type 1 via the SLC12A1 Gene$990.00$690.00
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Bloom's Syndrome via the BLM Gene$990.00$690.00
Branchiootorenal Syndrome Sequencing Panel$1490.00$770.00
Brittle Cornea Syndrome Sequencing Panel$1680.00
Brugada Syndrome 1 via the SCN5A Gene$990.00$690.00
Brugada Syndrome Sequencing Panel$1790.00$840.00
Brugada Syndrome via the CACNA2D1 Gene$990.00
Brugada Syndrome via the CACNB2 Gene$990.00$690.00
Brugada Syndrome via the SLMAP Gene$990.00
Brugada Syndrome via the KCND3 Gene$990.00
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
COASY Protein-Associated Neurodegeneration via the COASY Gene$1590.00
Cantu Syndrome via the ABCC9 Gene$990.00$690.00
Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene$990.00$690.00
Cataract 10, Multiple Types (CTRCT10) via the CRYBA1 Gene$990.00
Cataract Type 39 via the CRYGB Gene$990.00
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel$1590.00$840.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene$990.00$690.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the TRDN Gene$990.00
Centronuclear Myopathy Sequencing Panel$1690.00$840.00
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
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
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel$2090.00$1670.00
Charcot Marie Tooth - Comprehensive Sequencing Panel$2140.00$1670.00
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel$1690.00$1290.00
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 Autosomal Dominant Intermediate C via the YARS Gene$990.00$690.00
Charcot-Marie-Tooth Autosomal Dominant Intermediate F via the GNB4 Gene$990.00$690.00
Charcot-Marie-Tooth Type 4B1 via the MTMR2 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
Cholestasis Sequencing Panel$1590.00$1290.00
Choroideremia via the CHM Gene$990.00$690.00
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Chromosome 5q14.3 Deletion Syndrome via the MEF2C Gene$990.00$690.00
Chronic Granulomatous Disease Sequencing Panel$1490.00$770.00
Chronic Granulomatous Disease via the NCF4 Gene$990.00
Chronic Pancreatitis Sequencing Panel$1790.00$840.00
Chronic/Cutaneous Porphyria Sequencing Panel$1390.00$840.00
Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene$990.00
Ciliopathy Sequencing Panel$2990.00$1670.00
Classic Amyotrophic Lateral Sclerosis Sequencing Panel$1440.00$770.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
Cockayne Syndrome via the ERCC6 Gene$990.00$690.00
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel$1540.00$1290.00
Coffin-Siris Syndrome Sequencing Panel$1590.00$840.00
Cohen Syndrome via the VPS13B (COH1) Gene$990.00$690.00
Combined Factor V and Factor VIII Deficiency via the LMAN1 Gene$990.00$690.00
Complex Hereditary Spastic Paraplegia Sequencing Panel$2340.00$1290.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00Call for Quote
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
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 Sequencing Panel$1690.00$1290.00
Cone-Rod Dystrophy via the ADAM9 Gene$990.00$690.00
Cone-Rod Dystrophy via the CACNA2D4 Gene$990.00$690.00
Cone-Rod Dystrophy via the CDHR1 Gene$990.00$690.00
Cone-Rod Dystrophy via the PITPNM3 Gene$990.00$690.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Congenital Bile Acid Synthesis Defect Type 1 via the HSD3B7 Gene$990.00$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 Sequencing Panel$1840.00$840.00
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel$1540.00$840.00
Congenital Contractural Arachnodactyly (Beals Syndrome) via the FBN2 Gene$990.00$690.00
Congenital Dyserythropoietic Anemia Sequencing Panel$1440.00$840.00
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 Dyserythropoietic Anemia Type IV via the KLF1 Gene$990.00$690.00
Congenital Fiber Type Disproportion Sequencing Panel$1690.00$840.00
Congenital Fibrinogen Deficiency Sequencing Panel$1390.00$770.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel$1890.00$840.00
Congenital Generalized Lipodystrophy (CGL) Sequencing Panel$1090.00$730.00
Congenital Generalized Lipodystrophy (CGL) via the PTRF Gene$990.00
Congenital Hyperinsulinism Sequencing Panel$1490.00$840.00
Congenital Hypothyroidism (Central Hypothyroidism and Testicular Enlargement) via the IGSF1 Gene$990.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene$990.00$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 and Neonatal Diabetes Mellitus via the GLIS3 Gene$990.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
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 Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Congenital Myasthenic Syndrome Sequencing Panel$1690.00$1290.00
Congenital Myasthenic Syndrome via the GFPT1 Gene$990.00$690.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Congenital Nephrotic Syndrome via the NPHS1 Gene$990.00$690.00
Congenital Stationary Night Blindness Sequencing Panel$1590.00$1290.00
Congenital Stationary Night Blindness and Retinal Degeneration via the SLC24A1 Gene$990.00$690.00
Core Myopathy Sequencing Panel$1790.00$840.00
Corneal Dystrophies Sequencing Panel$1840.00$840.00
Cornelia de Lange Syndrome Sequencing Panel$1790.00$840.00
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel$2290.00$1290.00
Cornelia de Lange Syndrome and Wiedemann-Steiner Syndrome via the KMT2A Gene$990.00
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
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
Craniosynostosis and Related Disorders Sequencing Panel$1540.00$770.00
Craniosynostosis via the TCF12 Gene$990.00
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene$990.00$690.00
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene$990.00$690.00
Cystinuria Sequencing Panel$1390.00
DICER1 Syndrome via the DICER1 Gene$990.00$690.00
DITRA via the IL36RN Gene$990.00$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 22 (DFNA22) and Deafness, Autosomal Recessive 37 (DFNB37) via the MYO6 Gene$990.00$690.00
Deafness, Autosomal Dominant 2A (DFNA2A) via the KCNQ4 Gene$990.00$690.00
Deafness, Autosomal Dominant 36 (DFNA36) and Deafness, Autosomal Recessive 7 (DFNB7) via the TMC1 Gene$990.00$690.00
Deafness, Autosomal Dominant 4A (DFNA4A) via the MYH14 Gene$990.00$690.00
Deafness, Autosomal Dominant 51 (DFNA51) via the TJP2 Gene$990.00$690.00
Deafness, Autosomal Recessive 22 (DFNB22) via the OTOA Gene$990.00$690.00
Deafness, Autosomal Recessive 28 (DFNB28) via the TRIOBP Gene$990.00$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 39 (DFNB39) via the HGF Gene$990.00$690.00
Deafness, Autosomal Recessive 59 (DFNB59) via the DFNB59 Gene$990.00$690.00
Deafness, Autosomal Recessive 61 (DFNB61) via the SLC26A5 Gene$990.00$690.00
Deafness, Autosomal Recessive 77 (DFNB77) via the LOXHD1 Gene$990.00$690.00
Deafness, Autosomal Recessive 9 (DFNB9) via the OTOF Gene$990.00$690.00
Deafness, X-linked 6 (DFNX6) via the COL4A6 Gene$990.00$690.00
Dementia Sequencing Panel$1440.00$840.00
Dent Disease Sequencing Panel$1440.00$690.00
Dihydropyrimidine Dehydrogenase Deficiency via the DPYD Gene$990.00$690.00
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Dilated Cardiomyopathy via the LAMA4 Gene$990.00
Dilated Cardiomyopathy via the RBM20 Gene$990.00
Dilated Cardiomyopathy via the NEXN Gene$990.00
Dimethylglycine Dehydrogenase Deficiency via the DMGDH Gene$1590.00
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel$1590.00$1290.00
Disorders of Fatty Acid Oxidation Sequencing Panel$1440.00$1290.00
Disorders of Folate Metabolism and Transport Sequencing Panel$1290.00$730.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Distal Arthrogryposis 1B via the MYBPC1 Gene$990.00
Distal Arthrogryposis Sequencing Panel$2690.00$840.00
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 Sequencing Panel$1740.00$1290.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Distal Renal Tubular Acidosis Sequencing Panel$1440.00$840.00
Distal Renal Tubular Acidosis, Autosomal Recessive, via the ATP6V0A4 Gene$990.00$690.00
Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene$990.00$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) and Related Disorders Sequencing Panel$1680.00$840.00
Dyskeratosis Congenita (DC) via the TERT Gene$990.00$690.00
Dystonia Sequencing Panel$2100.00$840.00
Dystonia via the ANO3 Gene$1590.00
Dystonia via the GNAL Gene$1590.00
Dystonia via the THAP1 Gene$1590.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
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 Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via the KCNQ2 Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy and Intellectual Disability via the SPTAN1 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 SCN8A Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy via the SZT2 Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Early Infantile Epileptic Encephalopathy-12 via the PLCB1 Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Early Infantile Epileptic encephalopathy-4/Ohtahara syndrome via the STXBP1 Gene$990.00$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/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via the GRHL2 Gene$990.00$690.00
Ehlers-Danlos Syndrome Sequencing Panel$1890.00$840.00
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
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
Epidermolysis Bullosa and Related Disorders Sequencing Panel$1830.00$1290.00
Epidermolysis Bullosa with Pyloric Atresia via the ITGB4 Gene$990.00$690.00
Epilepsy: Benign Familial Neonatal Seizures Type 2 via the KCNQ3 Gene$990.00$690.00
Epilepsy: Dravet Syndrome Sequencing Panel$990.00$840.00
Epilepsy: Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Sequencing Panel$990.00$840.00
Epilepsy: Ohtahara Syndrome Sequencing Panel$1690.00$840.00
Epileptic Encephalopathy and Intellectual Disability via the CHD2 Gene$990.00$690.00
Episodic Pain Syndrome Sequencing Panel$1440.00$690.00
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
Facioscapulohumeral Muscular Dystrophy 2 via the SMCHD1 Gene$990.00$690.00
Factor V Deficiency via the F5 Gene$1290.00$690.00
Familial Adenomatous Polyposis via the APC Gene$1090.00$690.00
Familial Atrial Fibrillation Syndrome Sequencing Panel$1740.00$840.00
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 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 Focal Epilepsy with Variable Foci via the DEPDC5 Gene$990.00
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 Hemiplegic Migraine Sequencing Panel$1640.00$770.00
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel$1440.00$840.00
Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3) via the UNC13D Gene$990.00$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 Hypocalciuric Hypercalcemia (FHH) Sequencing Panel$1390.00$770.00
Familial Limb Girdle Myasthenic Syndrome via the AGRN Gene$990.00$690.00
Familial Pityriasis Rubra Pilaris (PRP) via the CARD14 Gene$990.00$690.00
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel$1590.00$840.00
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 FANCD2 Gene$1490.00$690.00
Fanconi Anemia via the FANCI Gene$990.00$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 RAD51/FANCR Gene$990.00
Fanconi Anemia via the SLX4/FANCP Gene$990.00$690.00
Female Infertility Sequencing Panel$1990.00$1670.00
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel$1440.00$1290.00
Fetal Concerns Sequencing Panel$1590.00
Flecked Retina Disorder Sequencing Panel$1790.00$840.00
Floating-Harbor Syndrome via the SRCAP Gene$990.00$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
Fraser Syndrome Sequencing Panel$1490.00$770.00
Frontotemporal Dementia via the MAPT Gene$990.00
Generalized Epilepsy With Febrile Seizures Plus via the GABRG2 Gene$990.00$690.00
Gitelman syndrome via the SLC12A3 Gene$990.00$690.00
Glanzmann's Thrombasthenia Sequencing Panel$1640.00$730.00
Glanzmann's Thrombasthenia via the ITGA2B Gene$990.00$690.00
Glaucoma Sequencing Panel$1940.00$840.00
Glomerulopathy with Fibronectin Deposits via the FN1 Gene$990.00
Glutaric Acidemia Type II Sequencing Panel$1440.00$770.00
Glycogen Storage Disease Type 0 via the Glycogen Synthase 2 (GYS2) Gene$990.00$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 VII (Tarui Disease) via the PFKM Gene$990.00$690.00
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel$1890.00$1290.00
Gray Platelet Syndrome via the NBEAL2 Gene$990.00$690.00
Hemophilia A via the F8 gene$990.00$690.00
Hereditary Breast and Ovarian Cancer via the RAD50 Gene$990.00$690.00
Hereditary Hemochromatosis Sequencing Panel$1490.00$730.00
Hereditary Hemochromatosis via the TFR2 Gene$990.00
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel$1440.00$770.00
Hereditary Multiple Osteochondromas (HMO) Sequencing Panel$1390.00$730.00
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Sequencing Panel$1690.00$840.00
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) via the DDX41 Gene$990.00
Hereditary Neuroblastoma via the ALK Gene$990.00$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 Sensory Neuropathy with Spastic Paraplegia via the CCT5 Gene$990.00
Hereditary Sensory Neuropathy, Type IE via the DNMT1 Gene$990.00$690.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel$2540.00$1290.00
Hereditary Spastic Paraplegia via the ATP2B4 (PMCA4) Gene$1590.00
Hereditary Spherocytosis Type 1 via the ANK1 Gene$990.00$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 Xerocytosis Sequencing Panel$1490.00
Hereditary Xerocytosis via the PIEZO1 Gene$990.00
Hermansky-Pudlak Syndrome (HPS) Sequencing Panel$1490.00$840.00
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 5 (HPS5) via the HPS5 Gene$990.00$690.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel$2140.00$1290.00
Hirschsprung Disease (HSCR) via the RET Gene$990.00$690.00
Hirschsprung Disease (Non-syndromic) Sequencing Panel$1690.00$840.00
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-9 (Autosomal Dominant, Nonsyndromic) via the GLI2 Gene$990.00$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
Hydroxyglutaric Aciduria Sequencing Panel$1390.00$690.00
Hyper IgE Syndrome Sequencing Panel$1540.00$770.00
Hyperammonemia Sequencing Panel$1690.00$1670.00
Hyperammonemia via the CPS1 Gene$990.00$690.00
Hypercalciuria via the ADCY10 Gene$990.00
Hypermethioninemia Sequencing Panel$1940.00
Hyperphenylalaninemia Sequencing Panel$1440.00$770.00
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 MYH6 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the VCL Gene$990.00$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
Hypomagnesemia Sequencing Panel$1590.00$1290.00
Hypoparathyroidism Sequencing Panel$1690.00$1290.00
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel$1770.00$690.00
Hypothyroidism [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational & Nonautoimmune] via the TSHR Gene$990.00$690.00
Infantile Cerebellar-Retinal Degeneration the ACO2 Gene$990.00$690.00
Infantile Myofibromatosis Sequencing Panel$1390.00
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 HUWE1 Gene$1590.00$690.00
Interstitial Lung Disease Sequencing Panel$1770.00$1290.00
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
Isolated Polycystic Liver Disease (PCLD) Sequencing Panel$1540.00$770.00
Isolated Polycystic Liver Disease (PCLD) via the SEC63 Gene$990.00$690.00
Johanson-Blizzard Syndrome via the UBR1 Gene$990.00$690.00
Joubert Syndrome via the AHI1 Gene$990.00$690.00
Joubert Syndrome via the C5orf42 Gene$990.00$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
Kabuki Syndrome Sequencing Panel$1740.00$730.00
Kabuki Syndrome via the KDM6A Gene$990.00$690.00
Kabuki Syndrome via the KMT2D Gene$990.00$690.00
Kallmann Syndrome Sequencing Panel$1440.00$770.00
Kallmann Syndrome via the KAL1(ANOS1) Gene$990.00$690.00
Kenny-Caffey Syndrome Sequencing Panel$1390.00$730.00
Kenny-Caffey Syndrome Type 1 via the TBCE Gene$990.00$690.00
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene$990.00$690.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00
Leber Congenital Amaurosis and Retinitis Pigmentosa via the CRB1 Gene$990.00$690.00
Left Ventricular Noncompaction (LVNC) Sequencing Panel$1540.00$840.00
Left Ventricular Noncompaction (LVNC) via the DTNA Gene$990.00$690.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFS1 Gene$990.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel$1440.00$840.00
Limb Girdle Muscular Dystrophy Type 1F via the TNPO3 Gene$990.00$690.00
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 2S (LGMD2S) via the TRAPPC11 Gene$990.00$690.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Lissencephaly with Cerebellar Hypoplasia via the RELN Gene$990.00$690.00
Loeys-Dietz Syndrome Sequencing Panel$1490.00$840.00
Long QT Syndrome Sequencing Panel$1740.00$1290.00
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 KCNH2 Gene$990.00$690.00
Long QT Syndrome via the AKAP9 Gene$990.00$690.00
Long QT Syndrome via the CALM2 Gene$990.00
Lung Cancer Susceptibility via the EGFR Gene$990.00$690.00
Lymphedema Sequencing Panel$1940.00$840.00
Lynch Syndrome via the MLH1 Gene$990.00$690.00
Lynch Syndrome via the MSH2 Gene$990.00$690.00
Lynch Syndrome via the MSH6 Gene$990.00$690.00
Majeed Syndrome via the LPIN2 Gene$990.00$690.00
Male Infertility Sequencing Panel$2190.00$1670.00
Malignant Hyperthermia Susceptibility Sequencing Panel$1590.00$770.00
Malignant Migrating Partial Seizures of Infancy and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the KCNT1 Gene$990.00$690.00
Mandibulofacial Dysostosis, Guion-Almeida Type via the EFTUD2 Gene$990.00
Maple Syrup Urine Disease Sequencing Panel$1440.00$770.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Marfan Syndrome via the FBN1 Gene$990.00$690.00
Maturity Onset Diabetes of the Young (MODY) Sequencing Panel$1590.00$1290.00
Meckel-Gruber Syndrome / Joubert Syndrome via the TCTN2 Gene$990.00$690.00
Meckel-Gruber Syndrome via the MKS1 Gene$990.00$690.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts Sequencing Panel$1340.00$730.00
Meier-Gorlin Syndrome Sequencing Panel$1440.00$840.00
Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene$1090.00$690.00
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene$990.00$690.00
Metabolic Hypoglycemia Sequencing Panel$1690.00$1290.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Metachromatic Leukodystrophy Sequencing Panel$1390.00$730.00
Methylmalonate Semialdehyde Dehydrogenase Deficiency via the ALDH6A1 Gene$990.00
Methylmalonic Acidemia Sequencing Panel$1440.00$840.00
Methylmalonic Aciduria and Homocystinuria Sequencing Panel$1440.00$770.00
Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene$990.00
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
Milroy Disease (Lymphedema Type I) via the FLT4 Gene$990.00$690.00
Mitochondrial Complex I Deficiency Sequencing Panel (Nuclear Genes)$1980.00$730.00
Mitochondrial Complex II Deficiency Sequencing Panel$2520.00$770.00
Mitochondrial Complex III Deficiency Sequencing Panel (Nuclear Genes)$1650.00
Mitochondrial Complex IV Deficiency Sequencing Panel (Nuclear Genes)$1710.00$690.00
Mitochondrial Complex IV Deficiency via the COA6 Gene$1590.00
Mitochondrial Complex IV Deficiency via the COX15 Gene$1590.00
Mitochondrial Complex IV Deficiency via the FASTKD2 Gene$1590.00
Mitochondrial Complex V Deficiency Sequencing Panel (Nuclear Genes)$2100.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Mitochondrial Hypomagnesemia via the SARS2 Gene$1590.00
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency via the HADHA Gene$990.00$690.00
Mosaic Variegated Aneuploidy Syndrome via the BUB1B Gene$990.00$690.00
Mucolipidosis and Stuttering via the GNPTAB Gene$990.00$690.00
Mucopolysaccharidosis Type III Sequencing Panel$1540.00$840.00
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
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Myofibrillar Myopathy via the FLNC Gene$990.00$690.00
Myotonia Congenita via the CLCN1 Gene$990.00
Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene$1990.00$690.00
Nemaline Myopathy 10 via the LMOD3 Gene$990.00
Nemaline Myopathy Sequencing Panel$2290.00$840.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
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 CEP164 Gene$990.00
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 NPHP4 Gene$990.00$690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Nephrotic Syndrome or Palmoplantar Keratoderma and Woolly Hair via the KANK2 Gene$990.00
Nephrotic Syndrome via the KANK1 Gene$990.00
Netherton Syndrome via the SPINK5 Gene$990.00$690.00
Neuroblastoma Sequencing Panel$1770.00$770.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel$2390.00$730.00
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel$1440.00$960.00
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene$990.00$540.00
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel$1390.00$770.00
Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel$1490.00$1290.00
Neuronal Ceroid Lipofuscinosis 12 via the ATP13A2 Gene$990.00
Neuronal Ceroid Lipofuscinosis 3 via the CLN3 Gene$990.00$690.00
Neuronal Ceroid Lipofuscinosis 4 via the DNAJC5 Gene$990.00$690.00
Neuronal Ceroid Lipofuscinosis 7 via the MFSD8 Gene$990.00$690.00
Niemann-Pick Disease Type C Sequencing Panel$1440.00$730.00
Niemann-Pick Disease Type C via the NPC1 Gene$990.00$690.00
Nijmegen Breakage Syndrome via the NBN Gene$990.00$690.00
Non-Syndromic Monogenic Obesity Sequencing Panel$1490.00$840.00
Non-Syndromic Monogenic Obesity via the LEPR Gene$990.00$690.00
Non-Syndromic Monogenic Obesity via the PCSK1 Gene$990.00$690.00
Non-Syndromic Monogenic Obesity via the POMC Gene$990.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel$1690.00$1670.00
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00
Noonan Syndrome via the LZTR1 Gene$990.00
Noonan Syndrome via the SOS2 Gene$990.00
Oculocerebrorenal Syndrome of Lowe (Lowe syndrome) and Dent Disease - 2 via the OCRL Gene$990.00$690.00
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Gene$990.00$690.00
Oculocutaneous Albinism in Griscelli syndrome via the MYO5A Gene$990.00
Oculofaciocardiodental Syndrome and Lenz Microphthalmia Syndrome via the BCOR Gene$990.00$690.00
Omenn Syndrome Sequencing Panel$1390.00$840.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
Organic Aciduria Sequencing Panel$1490.00$1290.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel$2390.00$730.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel$2540.00$730.00
Osteogenesis Imperfecta via the COL1A1 Gene$990.00
Osteogenesis Imperfecta via the COL1A2 Gene$990.00
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
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00
Parkinson Disease Sequencing Panel$1590.00$840.00
Parkinson Disease via the LRRK2 Gene$990.00$690.00
Pediatric Granulomatous Arthritis via the NOD2 Gene$990.00
Pendred Syndrome and Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct (DFNB4) via the SLC26A4 Gene$990.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00
Periventricular Heterotopia with Microcephaly via the ARFGEF2 Gene$990.00$690.00
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the DNM1L Gene$990.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX11B Gene$990.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX1 Gene$990.00$690.00
Perrault Syndrome Type 1 via the HSD17B4 Gene$990.00$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
Platelet Function Disorder Sequencing Panel$1640.00$1290.00
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Sequencing Panel$990.00
Polycystic Liver Disease (PLD) Sequencing Panel$2140.00$1030.00
Porphyria Sequencing Panel$1390.00$840.00
Primary Aldosteronism Sequencing Panel$1590.00$690.00
Primary Aldosteronism via the CACNA1D Gene$1590.00
Primary Aldosteronism via the CACNA1H Gene$1590.00
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 CCDC65 Gene$990.00
Primary Ciliary Dyskinesia (PCD) via the DNAH11 Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAH1 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 SPAG1 Gene$990.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel$1990.00$1290.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel$1990.00$1290.00
Primary Congenital Glaucoma via the LTBP2 Gene$990.00$690.00
Primary Hyperoxaluria Sequencing Panel$1440.00$730.00
Primary Periodic Paralysis Sequencing Panel$1490.00$770.00
Progressive Familial Heart Block via the TRPM4 Gene$990.00
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel$1490.00$840.00
Propionic Acidemia Sequencing Panel$1440.00$730.00
Propionic Acidemia via the PCCA 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 WNK1 Gene$990.00$690.00
Pseudohypoaldosteronism Type II via the WNK4 Gene$990.00$690.00
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel$1490.00$840.00
Pure Hereditary Spastic Paraplegia Sequencing Panel$2090.00$840.00
Pyridoxine-Dependent Epilepsy via the ALDH7A1 Gene$990.00$690.00
Pyruvate Carboxylase Deficiency via the PC Gene$990.00$690.00
Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel$1710.00$840.00
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene$990.00$690.00
Renal Cancer Sequencing Panel$2590.00$1290.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
Retinitis Pigmentosa via the PDE6A Gene$990.00$690.00
Retinitis Pigmentosa via the RP1 Gene$990.00$690.00
Retinoblastoma via the RB1 Gene$990.00$690.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel$1990.00$1290.00
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
Rothmund Thomson Syndrome via the RECQL4 Gene$990.00$690.00
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel$1490.00$770.00
Rubinstein-Taybi Syndrome via the CREBBP Gene$990.00$690.00
Rubinstein-Taybi Syndrome via the EP300 Gene$990.00$690.00
Schimke Immunoosseous Dysplasia via the SMARCAL1 Gene$990.00$690.00
Schwannomatosis Sequencing Panel$1440.00$690.00
Scott Syndrome via the ANO6 Gene$990.00$690.00
Seizures, Cortical Blindness, Microcephaly Syndrome and Deafness, Autosomal Dominant 1 (DFNA1) via the DIAPH1 Gene$1090.00$690.00
Septo-optic Dysplasia Spectrum Sequencing Panel$1390.00$840.00
Severe Combined Immunodeficiency/Omenn Syndrome via the DCLRE1C (ARTEMIS) Gene$990.00$690.00
Severe Congenital Neutropenia Sequencing Panel$1440.00$840.00
Short QT Syndrome Sequencing Panel$1740.00$840.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00
Short-Rib-Polydactyly Syndrome via the DYNC2H1 Gene$990.00
Sitosterolemia Sequencing Panel$1440.00
Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via the SCN9A Gene$990.00$690.00
Sotos Syndrome via the NSD1 Gene$990.00$690.00
Spastic Ataxia with Optic Atrophy (SPAX4) via the MTPAP Gene$990.00$690.00
Spastic Paraplegia 10 via the KIF5A Gene$1590.00$690.00
Spastic Paraplegia 11 via the SPG11 Gene$1590.00
Spastic Paraplegia 12 via the RTN2 Gene$1590.00
Spastic Paraplegia 18 via the ERLIN2 Gene$1590.00
Spastic Paraplegia 20 (Troyer Syndrome) via the SPG20 Gene$1590.00
Spastic Paraplegia 26 via the B4GALNT1 Gene$1590.00
Spastic Paraplegia 46 via the GBA2 Gene$1590.00
Spastic Paraplegia 47 via the AP4B1 Gene$1590.00
Spastic Paraplegia 48 via the AP5Z1 Gene$1590.00
Spastic Paraplegia 49 via the TECPR2 Gene$1590.00
Spastic Paraplegia 50 via the AP4M1 Gene$1590.00
Spastic Paraplegia 51 via the AP4E1 Gene$1590.00
Spastic Paraplegia 54 via the DDHD2 Gene$1590.00$690.00
Spastic Paraplegia 62 via the ERLIN1 Gene$1590.00
Spherocytosis/Elliptocytosis Sequencing Panel$1490.00$840.00
Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146$990.00$690.00
Spondylocostal Dysostosis Sequencing Panel$1590.00$770.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00
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 and XX Female Gonadal Dysgenesis via the NUP107 Gene$990.00
Steroid-Resistant Nephrotic Syndrome via the NUP205 Gene$990.00
Steroid-Resistant Nephrotic Syndrome via the NUP93 Gene$990.00
Steroid-Resistant Nephrotic Syndrome via the XPO5 Gene$990.00
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
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via the OXCT1 Gene$990.00$690.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00
Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene$990.00$690.00
TYK2 Deficiency via the TYK2 Gene$990.00
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 PRKG1 Gene$990.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00
Thrombocytopenia and Predisposition to Myeloid Malignancies via the ANKRD26 Gene$990.00$690.00
Thrombotic Thrombocytopenic Purpura (TTP) via the ADAMTS13 Gene$990.00$690.00
Timothy Syndrome and Brugada Syndrome via the CACNA1C Gene$990.00$690.00
Tooth Agenesis Sequencing Panel$1790.00$840.00
Treacher Collins Syndrome via the TCOF1 Gene$990.00
Treacher Collins Syndrome/ Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel$1440.00
Tuberous Sclerosis Complex via the TSC1 Gene$990.00$540.00
Tuberous Sclerosis Complex via the TSC2 Gene$990.00$540.00
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
Urea Cycle Disorders Sequencing Panel$1490.00$840.00
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, Deafness, Autosomal Dominant 11 (DFNA11) and Deafness, Autosomal Recessive 2 (DFNB2) via the MYO7A Gene$990.00$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
Valosin-Containing Protein-Related Disorders via the VCP Gene$990.00$690.00
Vitreoretinopathy Sequencing Panel$1590.00$840.00
Waardenburg Syndrome Sequencing Panel$1290.00$840.00
Wagner Syndrome via the VCAN Gene$990.00$690.00
Walker-Warburg Syndrome via the POMT2 Gene$990.00$690.00
Warburg Micro Syndrome Sequencing Panel$1490.00$840.00
Werner Syndrome via the WRN Gene$990.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00
X-linked Intellectual Disability and Epilepsy via the ARHGEF9 Gene$990.00$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
Xanthinuria Type I via the XDH Gene$990.00$690.00
Xeroderma Pigmentosum Sequencing Panel$1890.00$840.00
Xeroderma Pigmentosum via the ERCC5 Gene$990.00$690.00
von Willebrand Disease Types 1, 2, and 3 via the VWF Gene$1290.00$690.00

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

Searched:

NextGen

Available Test Methods

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