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Test Descriptions Found:

866

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NextGen

Test Available Sequencing Del/Dup Other
β-Ketothiolase Deficiency via the ACAT1 Gene$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-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH Gene$690.00$690.00
3-M Syndrome via the CUL7 Gene$990.00$690.00
3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel$1440.00$730.00
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 Gene$690.00$690.00
3-Methylglutaconic Aciduria Type I via the AUH Gene$690.00$690.00
ABCC8-Related Congenital Hyperinsulinism via the ABCC8 Gene$690.00$690.00
AMT-Related Glycine Encephalopathy via the AMT Gene$690.00$690.00
C12orf65-Associated Optic Atrophy via the C12orf65 Gene$990.00$690.00
CBL-Related Disorders via the CBL Gene$690.00$690.00
CDC73-Related Disorders via the CDC73 Gene$690.00$690.00
COL2A1-Related Disorders via the COL2A1 Gene$690.00$690.00
COMP-Related Disorders via the COMP Gene$690.00$690.00
FGFR1-Related Disorders via the FGFR1 Gene$690.00$690.00
FGFR2-Related Disorders via the FGFR2 Gene$690.00$690.00
FLNB-Related Disorders via the FLNB Gene$990.00$690.00
GLE1-Related Disorders via the GLE1 Gene$990.00$690.00
GNAS-Related Disorders via the GNAS Gene$690.00$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$690.00$690.00
KIF1A-Related Disorders via the KIF1A Gene$690.00
MFN2-Related Disorders via the MFN2 Gene$690.00$690.00
MFRP-Related Oculopathy via the MFRP Gene$690.00$690.00
MYH3-Related Distal Arthrogryposis via the MYH3 Gene$690.00$690.00
MYH9-Related Disorders via the MYH9 Gene$690.00$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
PRKAG2-Related Disorders via the PRKAG2 Gene$690.00$690.00
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$690.00$690.00
RYR1-Related Congenital Myopathies via the RYR1 Gene$1190.00$690.00
SECISBP2-Related Disorders via the SECISBP2 Gene$690.00
SLC25A13-Related Disorders via the SLC25A13 Gene$690.00$690.00
SUCLG1-Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLG1 Gene$690.00$690.00
SUCLG2-Related Mitochondrial DNA Depletion Syndrome via the SUCLG2 Gene$690.00$690.00
TK2-Related Mitochondrial DNA Depletion Syndrome via the TK2 Gene$690.00$690.00
TRPV4-related Disorders via the TRPV4 Gene$690.00$690.00
Achromatopsia (ACHM) Sequencing Panel$1440.00$840.00
Achromatopsia via the CNGB3 Gene$690.00$690.00
Achromatopsia via the PDE6C Gene$990.00$690.00
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene$690.00$690.00
Acute/Neurovisceral Porphyria Sequencing Panel$690.00$770.00
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene$990.00$690.00
Adams-Oliver Syndrome via the DOCK6 Gene$690.00
Adenylosuccinase Deficiency via the ADSL Gene$690.00$690.00
Aicardi-Goutiéres Syndrome 5 via the SAMHD1 Gene$990.00$690.00
Aicardi-Goutières Syndrome 2 via the RNASEH2B Gene$690.00$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$690.00
Aicardi-Goutières Syndrome Sequencing Panel$1450.00$840.00
Alagille Syndrome Sequencing Panel$1440.00$730.00
Alagille Syndrome-1 via the JAG1 Gene$690.00$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$690.00$690.00
Alzheimer Disease, Familial, Sequencing Panel$990.00$770.00
Alzheimer's Disease, Familial via the PSEN1 Gene$690.00$690.00
Alzheimer's Disease, Familial via the PSEN2 Gene$690.00$690.00
Amelogenesis Imperfecta with Gingival Hyperplasia Syndrome and Amelogenesis Imperfecta with Renal Syndrome via the FAM20A Gene$690.00$690.00
Aminoacylase-1 Deficiency via the ACY1 Gene$690.00$690.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene$690.00$690.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel$1540.00$1290.00
Amyotrophic Lateral Sclerosis via the OPTN Gene$690.00$690.00
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
Argininemia via the ARG1 Gene$690.00$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$690.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSC2 Gene$690.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSG2 Gene$940.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TMEM43 Gene$690.00$690.00
Arterial tortuosity syndrome (ATS) via the SLC2A10 Gene$690.00$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$690.00$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
Atypical Hemolytic-Uremic Syndrome and Nephrotic Syndrome via the DGKE Gene$690.00$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$690.00$690.00
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$690.00$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 Progressive External Ophthalmoplegia via the POLG2 Gene$690.00$690.00
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene$690.00$690.00
Autosomal Dominant and Recessive Polycystic Kidney Disease Sequencing Panel$2290.00$990.00
Autosomal Recessive Hyper IgE Syndrome via the DOCK8 Gene$690.00$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 Pseudohypoaldosteronism Type 1 via the SCNN1A Gene$690.00$690.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel$690.00$840.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the ACE Gene$990.00$690.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the REN Gene$690.00$690.00
Autosomal Recessive Retinitis Pigmentosa 26 (RP26) via the CERKL Gene$690.00$690.00
Autosomal Recessive Retinitis Pigmentosa via the EYS Gene$690.00
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$690.00$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 BBS2 Gene$690.00$690.00
Bardet-Biedl Syndrome via the BBS4 Gene$690.00$690.00
Bardet-Biedl Syndrome via the BBS5 Gene$690.00$690.00
Bardet-Biedl Syndrome via the BBS9 Gene$990.00$690.00
Bardet-Biedl Syndrome via the TTC8/BBS8 Gene$690.00$690.00
Bartter Syndrome Type 1 via the SLC12A1 Gene$690.00$690.00
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Bloom's Syndrome via the BLM Gene$690.00$690.00
Branchiootorenal Syndrome Sequencing Panel$1490.00$770.00
Branchiootorenal syndrome via the EYA1 Gene$690.00$690.00
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
CADASIL and CARASIL Sequencing Panel$690.00
CADASIL1 via the NOTCH3 Gene$690.00
CADASIL2 and CARASIL via the HTRA1 Gene$690.00
CHARGE Syndrome via the SEMA3E Gene$690.00
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$690.00
Cantu Syndrome via the ABCC9 Gene$690.00$690.00
Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene$990.00$690.00
Carnitine-Acylcarnitine Translocase Deficiency via the SLC25A20 Gene$690.00$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 CASQ2 Gene$690.00$690.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene$690.00$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$690.00$690.00
Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 Gene$990.00$690.00
Centronuclear Myopathy-4, Autosomal Dominant (CNM4) via the CCDC78 Gene$690.00$690.00
Cerebral Cavernous Malformations Sequencing Panel$1440.00$770.00
Cerebral Cavernous Malformations via the CCM2 Gene$690.00$690.00
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$750.00$1290.00
Charcot Marie Tooth Type 2U via the MARS Gene$990.00$690.00
Charcot Marie Tooth Type 4J via the FIG4 Gene$690.00$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 Type 4B2 via the SBF2 Gene$990.00$690.00
Charcot-Marie-Tooth Type 4B3 via the SBF1 Gene$990.00$690.00
Charcot-Marie-Tooth Type 4C via the SH3TC2 Gene$690.00$690.00
Charcot-Marie-Tooth Type X-linked Dominant 6 via the PDK3 Gene$690.00$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$690.00
Chediak-Higashi Syndrome (CHS) via the LYST Gene$690.00$690.00
Childhood Absence Epilepsy and Epileptic Encephalopathy via the GABRB3 Gene$690.00$690.00
Cholestasis Sequencing Panel$1590.00$1290.00
Choroideremia via the CHM Gene$990.00$690.00
Christianson Type X-Linked Mental Retardation via the SLC9A6 Gene$690.00$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$690.00$770.00
Chronic Granulomatous Disease via the CYBB Gene$690.00$690.00
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$690.00
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$690.00$690.00
Cockayne Syndrome via the ERCC8 Gene$690.00$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
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
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$690.00$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 Bile Acid Synthesis Defect Type 1 via the HSD3B7 Gene$990.00$690.00
Congenital Bile Acid Synthesis Defect Type 2 via the AKR1D1 Gene$690.00$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 Cataracts via the BFSP1 Gene$690.00
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel$1540.00$840.00
Congenital Contractural Arachnodactyly (Beals Syndrome) via the FBN2 Gene$690.00$690.00
Congenital Dyserythropoietic Anemia Sequencing Panel$690.00$840.00
Congenital Dyserythropoietic Anemia Type I via the C15orf41 Gene$690.00$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 Dyserythropoietic Anemia Type IV via the KLF1 Gene$990.00$690.00
Congenital Erythropoietic Porphyria via the UROS Gene$690.00
Congenital Factor XIII deficiency via the F13A1 Gene$690.00$690.00
Congenital Fiber Type Disproportion Sequencing Panel$1690.00$840.00
Congenital Fibrinogen Deficiency Sequencing Panel$690.00$770.00
Congenital Fibrinogen Deficiency via the FGB Gene$690.00$690.00
Congenital Fibrinogen Deficiency via the FGG Gene$690.00$690.00
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$690.00$690.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via the PAX8 Gene$690.00$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 (Thyroid Hormone Resistance) via the THRA Gene$690.00$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 Insensitivity to Pain with Anhidrosis via the NTRK1 Gene$990.00
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 Muscular Dystrophy, Megaconial Type via the CHKB Gene$690.00$690.00
Congenital Myasthenic Syndrome Sequencing Panel$1690.00$1290.00
Congenital Myasthenic Syndrome With Episodic Apnea via the CHAT Gene$690.00$690.00
Congenital Myasthenic Syndrome via the CHRNE Gene$690.00$690.00
Congenital Myasthenic Syndrome via the COLQ Gene$690.00$690.00
Congenital Myasthenic Syndrome via the GFPT1 Gene$690.00$690.00
Congenital Myasthenic Syndrome via the MUSK Gene$690.00$690.00
Congenital Myasthenic Syndromes and Multiple Pterygium Syndrome via the CHRND Gene$690.00$690.00
Congenital Myasthenic Syndromes via the CHRNB1 Gene$690.00$690.00
Congenital Myopathy (Native American Myopathy) via the STAC3 Gene$690.00$690.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Congenital Nephrotic Syndrome via the NPHS1 Gene$690.00$690.00
Congenital Stationary Night Blindness and Retinal Degeneration via the SLC24A1 Gene$990.00$690.00
Core Myopathy Sequencing Panel$1790.00$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 HDAC8 Gene$690.00
Cornelia de Lange Syndrome via the NIPBL Gene$690.00$690.00
Cornelia de Lange Syndrome via the RAD21 Gene$990.00
Cornelia de Lange Syndrome via the SMC1A Gene$690.00$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$690.00$690.00
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene$990.00$690.00
Cystinuria Sequencing Panel$690.00
Cystinuria via the SLC3A1 Gene$690.00
Cystinuria via the SLC7A9 Gene$690.00
Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via the PCK1 Gene$690.00$690.00
DICER1 Syndrome via the DICER1 Gene$990.00$690.00
DITRA via the IL36RN Gene$690.00$690.00
DOORS Syndrome and TBC1D24-related Epilepsy via the TBC1D24 Gene$690.00$690.00
Deafness, Autosomal Dominant 10 (DFNA10) via the EYA4 Gene$690.00$690.00
Deafness, Autosomal Dominant 12 (DFNA12) and Deafness, Autosomal Recessive 21 (DFNB21) via the TECTA Gene$690.00$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 44 (DFNA44) via the CCDC50 Gene$690.00$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 Dominant 9 (DFNA9) via the COCH Gene$690.00$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 35 (DFNB35) via the ESRRB Gene$690.00$690.00
Deafness, Autosomal Recessive 39 (DFNB39) via the HGF Gene$990.00$690.00
Deafness, Autosomal Recessive 42 (DFNB42) via the ILDR1 Gene$690.00$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$690.00$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$690.00$690.00
Dent Disease via the CLCN5 Gene$690.00
Dihydrolipoamide Dehydrogenase Deficiency via the DLD Gene$690.00$690.00
Dihydropyrimidine Dehydrogenase Deficiency via the DPYD Gene$690.00$690.00
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
Distal Arthrogryposis 1B via the MYBPC1 Gene$690.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNT3 Gene$690.00$690.00
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 Motor Neuropathy, Type 7A via the SLC5A7 Gene$690.00$690.00
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
Distal Renal tubular acidosis with sensorineural deafness via the ATP6V1B1 Gene$690.00$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$690.00$690.00
Dynamin-2 Related Disorders via the DNM2 Gene$690.00$690.00
Dyskeratosis Congenita (DC) via the TERT Gene$990.00$690.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Dystroglycanopathy via the B3GALNT2 Gene$690.00$690.00
Dystroglycanopathy via the LARGE1/LARGE Gene$690.00$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 Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via the KCNQ2 Gene$690.00$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$690.00$690.00
Early Infantile Epileptic Encephalopathy via the SCN8A Gene$690.00$690.00
Early Infantile Epileptic Encephalopathy via the SZT2 Gene$690.00$690.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Early Infantile Epileptic Encephalopathy-12 via the PLCB1 Gene$690.00$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 Ataxia with Oculomotor Apraxia Type 1 via the APTX Gene$690.00$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 EDAR Gene$690.00$690.00
Ectodermal Dysplasia via the KRT85 Gene$690.00
Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via the GRHL2 Gene$990.00$690.00
Ehlers-Danlos Syndrome Sequencing Panel$990.00$1290.00
Ehlers-Danlos Syndrome, Classic Type via the COL5A1 Gene$690.00$690.00
Ehlers-Danlos Syndrome, Classic Type via the COL5A2 Gene$690.00$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$690.00$730.00
Ellis-van Creveld Syndrome via the EVC2 Gene$990.00$690.00
Ellis-van Creveld Syndrome via the EVC Gene$690.00$690.00
Epidermolysis Bullosa with Pyloric Atresia via the ITGB4 Gene$990.00$690.00
Epilepsy and Intellectual Disability in Females via the PCDH19 Gene$690.00$690.00
Epilepsy: GNAO1-Related Early Infantile Epileptic Encephalopathy and Neurodevelopmental Disorder with Involuntary Movement via the GNAO1 Gene$690.00$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: Early Infantile Epileptic Encephalopathy via the ARHGEF9 Gene$990.00$690.00
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$690.00$690.00
Epilespy, Autosomal Dominant Lateral Temporal, via the LGI1 Gene$690.00$690.00
Episodic Pain Syndrome Sequencing Panel$1440.00$690.00
FOXC1-Related Disorders via the FOXC1 Gene$690.00$690.00
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
Facioscapulohumeral Muscular Dystrophy 2 via the SMCHD1 Gene$690.00$690.00
Factor V Deficiency via the F5 Gene$1290.00$690.00
Factor X Deficiency via the F10 Gene$690.00$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$690.00
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$690.00
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$730.00
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel$1440.00$840.00
Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3) via the UNC13D Gene$690.00$690.00
Familial Hemophagocytic Lymphohistiocytosis-Type 5 (FHL5) via the STXBP2 Gene$690.00$690.00
Familial Hypercholesterolemia Sequencing Panel$1390.00$770.00
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene$690.00$690.00
Familial Hypercholesterolemia via the LDLR Gene$990.00$690.00
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel$1390.00$770.00
Familial Isolated Hypoparathyroidism via the GCM2 Gene$690.00$690.00
Familial Limb Girdle Myasthenic Syndrome With Tubular Aggregates via the DPAGT1 Gene$690.00$690.00
Familial Limb Girdle Myasthenic Syndrome via the AGRN Gene$690.00$690.00
Familial Meningioma via the SMARCE1 Gene$690.00$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$1030.00$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$690.00$690.00
Fanconi Anemia via the FANCC Gene$690.00$690.00
Fanconi Anemia via the FANCD2 Gene$1490.00$690.00
Fanconi Anemia via the FANCE Gene$690.00$690.00
Fanconi Anemia via the FANCG Gene$690.00$690.00
Fanconi Anemia via the FANCI Gene$990.00$690.00
Fanconi Anemia via the FANCL Gene$690.00$690.00
Fanconi Anemia via the FANCM Gene$690.00$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
Fanconi Anemia, X-linked, via the FANCB Gene$690.00$690.00
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel$1440.00$1290.00
Floating-Harbor Syndrome via the SRCAP Gene$690.00$690.00
Focal Epilepsy with Speech Disorder with or without Intellectual Disability via the GRIN2A Gene$690.00$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 GRN Gene$690.00
Frontotemporal Dementia via the MAPT Gene$990.00
Galloway-Mowat Syndrome via the WDR73 Gene$690.00
Generalized Epilepsy With Febrile Seizures Plus via the GABRG2 Gene$990.00$690.00
Giant Axonal Neuropathy via the GAN Gene$690.00$690.00
Gitelman Syndrome via the SLC12A3 Gene$690.00$690.00
Glanzmann's Thrombasthenia Sequencing Panel$690.00$730.00
Glanzmann's Thrombasthenia via the ITGA2B Gene$690.00$690.00
Glanzmann's Thrombasthenia via the ITGB3 Gene$690.00$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
Glutaric Acidemia Type II via the ETFA Gene$690.00$690.00
Glutaric Acidemia Type II via the ETFDH Gene$690.00$690.00
Glycine N-Methyltransferase Deficiency via the GNMT Gene$690.00
Glycine Encephalopathy Sequencing Panel$690.00$730.00
Glycine Encephalopathy via the GCSH Gene$690.00
Glycogen Storage Disease Type 0 via the Glycogen Synthase 2 (GYS2) Gene$690.00$690.00
Glycogen Storage Disease Type III via the AGL Gene$690.00$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$690.00$690.00
Glycogen Storage Disease Type IX via the PHKB Gene$690.00$690.00
Glycogen Storage Disease Type VI via the PYGL Gene$690.00$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
Glycyl tRNA Synthetase-Related Disorders via the GARS Gene$690.00$690.00
Gray Platelet Syndrome via the NBEAL2 Gene$690.00$690.00
Hemophilia A via the F8 Gene$690.00$690.00
Hemophilia C via the F11 Gene$690.00$690.00
Hennekam Lymphangiectasia-Lymphedema Syndrome via the CCBE1 Gene$690.00$690.00
Hereditary Breast and Ovarian Cancer via the RAD50 Gene$990.00$690.00
Hereditary Coproporphyria via the CPOX Gene$690.00$690.00
Hereditary Hemochromatosis Sequencing Panel$1490.00$730.00
Hereditary Hemochromatosis via the SLC40A1 Gene$690.00$690.00
Hereditary Hemochromatosis via the TFR2 Gene$690.00
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel$1440.00$770.00
Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) / Osler-Weber-Rendu Disease via the ENG Gene$690.00$690.00
Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2) via the ACVRL1/ALK1 Gene$690.00$690.00
Hereditary Multiple Osteochondromas (HMO) Sequencing Panel$1390.00$730.00
Hereditary Multiple Osteochondromas (HMO) via the EXT2 Gene$690.00$690.00
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$690.00$690.00
Hereditary Papillary Renal Cell Carcinoma via the MET Gene$690.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel$1490.00$1290.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHB Gene$690.00$690.00
Hereditary Sensory Neuropathy with Spastic Paraplegia via the CCT5 Gene$990.00
Hereditary Sensory Neuropathy, Type IE via the DNMT1 Gene$690.00$690.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00
Hereditary Spherocytosis Type 1 via the ANK1 Gene$990.00$690.00
Hereditary Spherocytosis via the EPB42 Gene$690.00$690.00
Hereditary Spherocytosis via the SLC4A1 Gene$690.00$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 Thrombocytopenia and Hematologic Malignancy via the ETV6 Gene$690.00$690.00
Hereditary Xerocytosis Sequencing Panel$1490.00
Hereditary Xerocytosis via the PIEZO1 Gene$690.00
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 4 (HPS4) via the HPS4 Gene$690.00$690.00
Hermansky-Pudlak Syndrome Type 5 (HPS5) via the HPS5 Gene$990.00$690.00
Hermansky-Pudlak Syndrome Type 7 (HPS7) via the DTNBP1 Gene$690.00$690.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel$2140.00$1290.00
Heterotaxy, Visceral 4 (HTX4) via the ACVR2B Gene$690.00$690.00
Hirschsprung Disease (HSCR) via the RET Gene$690.00$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-5 (Autosomal Dominant, Nonsyndromic) via the ZIC2 Gene$690.00$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$690.00$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 IgD Syndrome/Mevalonate Aciduria via the MVK Gene$690.00$690.00
Hyper IgE Syndrome Sequencing Panel$1440.00$770.00
Hyperammonemia Sequencing Panel$1690.00$1670.00
Hyperammonemia via the CPS1 Gene$990.00$690.00
Hypercalcemic and Hypocalcemic Disorders via the GNA11 Gene$690.00$690.00
Hypercalciuria via the ADCY10 Gene$990.00
Hypermethioninemia Sequencing Panel$1940.00
Hyperphenylalaninemia Sequencing Panel$690.00$770.00
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
Hypomyelination and Congenital Cataract (HCC) via the FAM126A Gene$690.00$690.00
Hypoparathyroidism Sequencing Panel$1690.00$1290.00
Hypothyroidism [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational & Nonautoimmune] via the TSHR Gene$690.00$690.00
Idiopathic Basal Ganglia Calcification Sequencing Panel$649.00$690.00
Inclusion Body Myopathy-2 (Autosomal Recessive) and Nonaka Myopathy via the GNE Gene$690.00$690.00
Infantile Cerebellar-Retinal Degeneration the ACO2 Gene$990.00$690.00
Infantile Liver Failure Syndrome Sequencing Panel$690.00
Infantile Myofibromatosis Sequencing Panel$1390.00
Infantile Myofibromatosis and Idiopathic Basal Ganglia Calcification via the PDGFRB Gene$690.00
Integrin Alpha 7-Related Congenital Myopathy via the ITGA7 Gene$990.00$690.00
Intrahepatic Cholestasis via the ABCB11 Gene$690.00$690.00
Intrahepatic Cholestasis via the ABCB4 Gene$690.00$690.00
Intrahepatic Cholestasis via the ATP8B1 Gene$690.00$690.00
Isolated Polycystic Liver Disease (PCLD) Sequencing Panel$1540.00$770.00
Isolated Polycystic Liver Disease (PCLD) via the PRKCSH Gene$690.00$690.00
Isolated Polycystic Liver Disease (PCLD) via the SEC63 Gene$990.00$690.00
Johanson-Blizzard Syndrome via the UBR1 Gene$690.00$690.00
Joubert Syndrome via the INPP5E Gene$690.00$690.00
Joubert Syndrome via the AHI1 Gene$690.00$690.00
Joubert Syndrome via the ARL13B Gene$690.00$690.00
Joubert Syndrome via the C5orf42 Gene$690.00$690.00
Joubert Syndrome via the TMEM237 Gene$690.00$690.00
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene$690.00$690.00
Joubert and Meckel-Gruber Syndromes Sequencing Panel$1890.00$1290.00
Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene$690.00$690.00
Joubert and Meckel-Gruber Syndromes via the CEP290 Gene$690.00$690.00
Joubert and Meckel-Gruber Syndromes via the RPGRIP1L Gene$990.00$690.00
Juvenile Myoclonic Epilepsy via the GABRA1 Gene$690.00$690.00
Kabuki Syndrome Sequencing Panel$1740.00$730.00
Kabuki Syndrome via the KDM6A Gene$690.00$690.00
Kabuki Syndrome via the KMT2D Gene$990.00$690.00
Kallmann Syndrome (KS) Sequencing Panel$690.00$840.00
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
Kohlschutter-Tonz syndrome (KTS) via the ROGDI Gene$690.00$690.00
Leber Congenital Amaurosis 1 (LCA1) and Cone-Rod dystrophy 6 (CORD6) via the GUCY2D Gene$690.00$690.00
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene$690.00$690.00
Leber Congenital Amaurosis and Retinitis Pigmentosa via the CRB1 Gene$690.00$690.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFS1 Gene$990.00$690.00
Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene$690.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel$1440.00$840.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B3 Gene$690.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B4 Gene$690.00$690.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene$690.00$690.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene$690.00$690.00
Limb Girdle Muscular Dystrophy Type 1F via the TNPO3 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2A via the CAPN3 Gene$690.00$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$690.00$840.00
Loeys-Dietz Syndrome via the TGFBR1 Gene$690.00$690.00
Loeys-Dietz Syndrome via the TGFBR2 Gene$690.00$690.00
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$690.00$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$690.00$690.00
Lymphedema Sequencing Panel$1940.00$840.00
Lynch Syndrome via the EPCAM Gene$690.00$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 MSH6 Gene$990.00$690.00
Majeed Syndrome via the LPIN2 Gene$990.00$690.00
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$690.00$690.00
Mandibulofacial Dysostosis, Guion-Almeida Type via the EFTUD2 Gene$690.00
Maple Syrup Urine Disease Sequencing Panel$1440.00$770.00
Maple Syrup Urine Disease Type IA via the BCKDHA Gene$690.00$690.00
Maple Syrup Urine Disease Type IB via the BCKDHB Gene$690.00$690.00
Maple Syrup Urine Disease Type II via the DBT Gene$690.00$690.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Marfan Syndrome via the FBN1 Gene$990.00$690.00
Marinesco-Sjogren Syndrome via the SIL1 Gene$690.00$690.00
Maturity Onset Diabetes of the Young (MODY) Sequencing Panel$1590.00$1290.00
Maturity Onset Diabetes of the Young (MODY) via the BLK Gene$690.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the HNF1A Gene$690.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the HNF4A Gene$690.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the PAX4 Gene$690.00$690.00
Meckel-Gruber Syndrome / Joubert Syndrome via the TCTN2 Gene$990.00$690.00
Meckel-Gruber Syndrome via the MKS1 Gene$690.00$690.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts Sequencing Panel$1340.00$730.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts via the MLC1 Gene$690.00$690.00
Meier-Gorlin Syndrome Sequencing Panel$1440.00$840.00
Meier-Gorlin Syndrome via the CDC6 Gene$690.00$690.00
Meier-Gorlin Syndrome via the CDT1 Gene$690.00$690.00
Meier-Gorlin Syndrome via the ORC1 Gene$690.00$690.00
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$690.00$730.00
Metachromatic Leukodystrophy via the PSAP Gene$690.00$690.00
Methylmalonate Semialdehyde Dehydrogenase Deficiency via the ALDH6A1 Gene$690.00
Methylmalonic Acidemia Sequencing Panel$1440.00$840.00
Methylmalonic Aciduria and Homocystinuria Sequencing Panel$1440.00$770.00
Methylmalonic Aciduria and Homocystinuria, cblF type, via the LMBRD1 Gene$690.00$690.00
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$690.00$690.00
Microform Holoprosencephaly (HPE10) via the DISP1 Gene$690.00$690.00
Miller Syndrome via the DHODH Gene$690.00
Milroy Disease (Lymphedema Type I) via the FLT4 Gene$990.00$690.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease via the TYMP Gene$690.00$690.00
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$690.00$690.00
Mucolipidosis and Stuttering via the GNPTAB Gene$690.00$690.00
Mucopolysaccharidosis Type III Sequencing Panel$690.00$840.00
Mucopolysaccharidosis Type IIIC / Sanfilippo Syndrome C via the HGSNAT Gene$690.00$690.00
Mucopolysaccharidosis Type IIID / Sanfilippo Syndrome D via the GNS Gene$690.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$690.00$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$690.00$690.00
Multiple Pterygium Syndrome via the CHRNG Gene$690.00$690.00
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Myofibrillar Myopathy via the FLNC Gene$990.00$690.00
Myofibrillar Myopathy via the LDB3 (ZASP) Gene$690.00$690.00
Myotonia Congenita via the CLCN1 Gene$690.00
Naxos Disease and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the JUP Gene$690.00$690.00
Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene$1990.00$690.00
Nemaline Myopathy 10 via the LMOD3 Gene$990.00
Nemaline Myopathy 5 (Amish Nemaline Myopathy) via the TNNT1 Gene$690.00$690.00
Nemaline Myopathy 9 via the KLHL41 Gene$690.00$690.00
Nemaline Myopathy Sequencing Panel$2290.00$840.00
Nemaline Myopathy via the KLHL40 Gene$690.00$690.00
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$690.00$690.00
Nephronophthisis and Situs Inversus via the ANKS6 Gene$990.00
Nephronophthisis via the INVS / NPHP2 Gene$690.00$690.00
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
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$750.00$1290.00
Neuronal Ceroid Lipofuscinosis 1 via the PPT1 Gene$690.00$690.00
Neuronal Ceroid Lipofuscinosis 12 via the ATP13A2 Gene$690.00
Neuronal Ceroid Lipofuscinosis 2 via the TPP1 Gene$690.00$690.00
Neuronal Ceroid Lipofuscinosis 3 via the CLN3 Gene$690.00$690.00
Neuronal Ceroid Lipofuscinosis 4 via the DNAJC5 Gene$990.00$690.00
Neuronal Ceroid Lipofuscinosis 6 via the CLN6 Gene$690.00$690.00
Neuronal Ceroid Lipofuscinosis 7 via the MFSD8 Gene$690.00$690.00
Neutral Lipid Storage Disease with Myopathy via the PNPLA2 Gene$690.00$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$690.00$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$690.00
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$690.00
Noonan Syndrome via the SOS1 Gene$690.00$690.00
Noonan Syndrome via the SOS2 Gene$990.00
Noonan-Like Syndrome with Loose Anagen Hair via the SHOC2 Gene$690.00$690.00
Ocular Albinism (OA1) via the GPR143 Gene$690.00
Oculocerebrorenal Syndrome of Lowe (Lowe syndrome) and Dent Disease - 2 via the OCRL Gene$690.00$690.00
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Gene$690.00$690.00
Oculocutaneous Albinism Type 3 (OCAIII) via the TYRP1 Gene$690.00
Oculocutaneous Albinism Type 4 (OCAIV) via the SLC45A2 Gene$690.00
Oculocutaneous Albinism in Griscelli syndrome via the MYO5A Gene$990.00
Oculofaciocardiodental Syndrome and Lenz Microphthalmia Syndrome via the BCOR Gene$690.00$690.00
Omenn Syndrome Sequencing Panel$1390.00$840.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
Optic Atrophy and Hereditary Spastic Paraplegia via the SPG7 Gene$690.00$690.00
Organic Aciduria Sequencing Panel$1490.00$1290.00
Osteogenesis Imperfecta via the COL1A1 Gene$690.00
Osteogenesis Imperfecta via the COL1A2 Gene$690.00
Osteopetrosis via the CA2 Gene$690.00$690.00
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$690.00$690.00
Paget Disease of Bone via the SQSTM1 Gene$690.00$690.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00
Parkinson Disease Sequencing Panel$1590.00$840.00
Parkinson Disease via the FBXO7 Gene$690.00
Parkinson Disease via the LRRK2 Gene$990.00$690.00
Parkinson’s Disease via the SNCA Gene$990.00$690.00
Parkinson's Disease, Early Onset via the PINK1 Gene$690.00$690.00
Parkinson's Disease, Juvenile via the PARK2 Gene$690.00$690.00
Pediatric Granulomatous Arthritis via the NOD2 Gene$690.00
Pendred Syndrome and Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct (DFNB4) via the SLC26A4 Gene$690.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00
Periventricular Heterotopia with Microcephaly via the ARFGEF2 Gene$690.00$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$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX14 Gene$690.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX16 Gene$690.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX1 Gene$690.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX3 Gene$690.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene$690.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX6 Gene$690.00$690.00
Perrault Syndrome Type 1 via the HSD17B4 Gene$990.00$690.00
Phosphoglycerate Kinase Deficiency via the PGK1 Gene$690.00$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 Ciliary Dyskinesia (PCD) via the CCDC114 Gene$690.00
Primary Ciliary Dyskinesia (PCD) via the CCDC39 Gene$690.00$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 DNAAF1 / LRRC50 Gene$690.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF2 Gene$690.00$690.00
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$690.00$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$690.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DRC1 Gene$690.00
Primary Ciliary Dyskinesia (PCD) via the LRRC6 Gene$690.00
Primary Ciliary Dyskinesia (PCD) via the RSPH1 Gene$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 Ciliary Dyskinesia via the DNAAF3 Gene$690.00$690.00
Primary Congenital Glaucoma via the LTBP2 Gene$690.00$690.00
Primary Hyperoxaluria Sequencing Panel$690.00$730.00
Primary Hyperoxaluria Type 1 via the AGXT Gene$690.00$690.00
Primary Hyperoxaluria Type 3 via the HOGA1 Gene$690.00
Primary Hyperoxaluria type 2 via the GRHPR Gene$690.00$690.00
Primary Open Angle Glaucoma via the MYOC Gene$680.00$690.00
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
Progressive Myoclonic Epilepsy, With or Without Renal Failure, via the SCARB2 Gene$690.00$690.00
Propionic Acidemia Sequencing Panel$690.00$730.00
Propionic Acidemia via the PCCA Gene$690.00$690.00
Propionic Acidemia via the PCCB Gene$690.00$690.00
Prothrombin/Factor II Deficiency via the F2 Gene$690.00$690.00
Proximal Renal Tubular Acidosis with Ocular Abnormalities via the SLC4A4 Gene$990.00
Pseudohypoaldosteronism Type I Sequencing Panel$690.00$840.00
Pseudohypoaldosteronism Type II Sequencing Panel$690.00$840.00
Pseudohypoaldosteronism Type II via the CUL3 Gene$990.00$690.00
Pseudohypoaldosteronism Type II via the KLHL3 Gene$690.00$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
Pyridoxine-Dependent Epilepsy via the ALDH7A1 Gene$690.00$690.00
Pyruvate Carboxylase Deficiency via the PC Gene$690.00$690.00
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene$990.00$690.00
Refsum Disease via the PHYH Gene$690.00$690.00
Renal Cancer Sequencing Panel$2590.00$1290.00
Renal Coloboma Syndrome and Isolated Renal Hypoplasia via the PAX2 Gene$690.00$690.00
Retinitis Pigmentosa 35 (RP35) and Cone-Rod Dystrophy 10 (CORD10) via the SEMA4A Gene$690.00$690.00
Retinitis Pigmentosa via the PDE6A Gene$690.00$690.00
Retinitis Pigmentosa via the RP1 Gene$690.00$690.00
Retinoblastoma via the RB1 Gene$990.00$690.00
Rett Syndrome via the MECP2 Gene$690.00$690.00
Rhizomelic Chondrodysplasia Punctata Type 1 and Adult Refsum Disease via the PEX7 Gene$690.00$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$690.00$690.00
Rothmund Thomson Syndrome via the RECQL4 Gene$690.00$690.00
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel$1490.00$770.00
Rubinstein-Taybi Syndrome via the CREBBP Gene$690.00$690.00
Rubinstein-Taybi Syndrome via the EP300 Gene$690.00$690.00
Schimke Immunoosseous Dysplasia via the SMARCAL1 Gene$690.00$690.00
Schwannomatosis Sequencing Panel$690.00$690.00
Scott Syndrome via the ANO6 Gene$990.00$690.00
Seipin-Related Disorders via the BSCL2 Gene$690.00$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$690.00$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 Combined Immunodeficiency/Omenn Syndrome via the IL7R Gene$690.00$690.00
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG1 Gene$690.00$690.00
Severe Congenital Neutropenia Sequencing Panel$1440.00$840.00
Severe Congenital Neutropenia via the VPS45 Gene$690.00
Severe MTHFR Deficiency via the MTHFR Gene$690.00$690.00
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$690.00
Shprintzen-Goldberg Syndrome via the SKI Gene$690.00$690.00
Sick Sinus Syndrome and Brugada Syndrome via the HCN4 Gene$690.00$690.00
Sitosterolemia Sequencing Panel$690.00
Sitosterolemia via the ABCG8 Gene$690.00
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$690.00$690.00
Spastic Paraplegia 3A via the ATL1 Gene$690.00
Spherocytosis/Elliptocytosis Sequencing Panel$1490.00$840.00
Spinal Muscular Atrophy with Respiratory Distress Type 1 via the IGHMBP2 Gene$690.00$690.00
Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146$690.00$690.00
Spinocerebellar Ataxia-12 via the WWOX Gene$690.00
Spondylocostal Dysostosis Sequencing Panel$1590.00$770.00
Spondylocostal Dysostosis via the TBX6 Gene$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$690.00$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$690.00$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$690.00$770.00
Stuttering via the NAGPA Gene$690.00$690.00
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via the OXCT1 Gene$690.00$690.00
Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene$990.00$690.00
Surfactant Protein B Deficiency via the SFTPB Gene$690.00$690.00
Systemic Primary Carnitine Deficiency via the SLC22A5 Gene$690.00$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
Thoracic Aortic Aneurysm and Dissection (TAAD) via the SMAD3 Gene$690.00$690.00
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$690.00$690.00
Thrombocytopenia via the MASTL Gene$690.00$690.00
Thrombotic Thrombocytopenic Purpura (TTP) via the ADAMTS13 Gene$690.00$690.00
Timothy Syndrome and Brugada Syndrome via the CACNA1C Gene$990.00$690.00
Transcobalamin II Deficiency via the TCN2 Gene$690.00
Treacher Collins Syndrome via the POLR1C Gene$690.00
Treacher Collins Syndrome via the TCOF1 Gene$690.00
Treacher Collins Syndrome/ Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel$1440.00
Tuberous Sclerosis Complex via the TSC1 Gene$690.00$540.00
Tuberous Sclerosis Complex via the TSC2 Gene$690.00$540.00
Tubular Aggregate Myopathy via the STIM1 Gene$690.00$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$690.00$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$690.00$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$690.00$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$690.00$690.00
Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene$690.00$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$690.00$690.00
Valosin-Containing Protein-Related Disorders via the VCP Gene$690.00$690.00
Variegate Porphyria via the PPOX Gene$690.00$690.00
Vitreoretinopathy Sequencing Panel$1590.00$840.00
Vitreoretinopathy, Neovascular Inflammatory via the CAPN5 Gene$990.00$690.00
Waardenburg Syndrome Sequencing Panel$1290.00$840.00
Wagner Syndrome via the VCAN Gene$690.00$690.00
Walker-Warburg Syndrome via the POMT1 Gene$690.00$690.00
Walker-Warburg Syndrome via the POMT2 Gene$990.00$690.00
Walker-Warburg Syndrome via the Isoprenoid Synthase Domain Containing (ISPD) Gene$690.00$690.00
Warburg Micro Syndrome Sequencing Panel$1490.00$840.00
Welander Distal Myopathy via the TIA1 Gene$690.00
Werner Syndrome via the WRN Gene$690.00$690.00
X-linked Nance-Horan Syndrome and Congenital Cataract via the NHS Gene$690.00$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 ERCC2 Gene$690.00$690.00
Xeroderma Pigmentosum via the ERCC3 Gene$690.00$690.00
Xeroderma Pigmentosum via the ERCC4 Gene$690.00$690.00
Xeroderma Pigmentosum via the ERCC5 Gene$990.00$690.00
Xeroderma Pigmentosum via the XPC Gene$690.00$690.00
von Willebrand Disease Types 1, 2, and 3 via the VWF Gene$1290.00$690.00

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NextGen

Available Test Methods

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