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Test Descriptions Found:

455

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NextGen

Panel(s) Available Sequencing Del/Dup Other
Multiple Epiphyseal Dysplasia Sequencing Panel$640.00$1290.00
Alport Syndrome (AS) Sequencing Panel$640.00$1190.00
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel$640.00$1190.00
Stickler Syndrome Sequencing Panel$780.00$1290.00
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel$640.00$1190.00
Distal Hereditary Myopathy Sequencing Panel$640.00$1490.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$640.00$1490.00
Comprehensive Neuromuscular Sequencing Panel$830.00Call for quote
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$640.00$1490.00
Congenital Muscular Dystrophy Sequencing Panel$640.00$1490.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1000.00$1490.00
Congenital Myopathy Sequencing Panel$640.00$1490.00
Single Gene Test(s) Available Sequencing Del/Dup Other
PRKAG2-Related Disorders via the PRKAG2 Gene$640.00$990.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TMEM43 Gene$640.00$990.00
Heterotaxy, Visceral 4 (HTX4) via the ACVR2B Gene$640.00$990.00
Fanconi Anemia via the FANCL Gene$640.00$990.00
Familial Hemophagocytic Lymphohistiocytosis-Type 5 (FHL5) via the STXBP2 Gene$640.00$990.00
Hennekam Lymphangiectasia-Lymphedema Syndrome via the CCBE1 Gene$640.00$990.00
Thrombotic Thrombocytopenic Purpura (TTP) via the ADAMTS13 Gene$640.00$990.00
Thrombocytopenia via the MASTL Gene$640.00$990.00
Carbamoylphosphate Synthetase I Deficiency via the CPS1 Gene$640.00$990.00
Joubert Syndrome via the ARL13B Gene$640.00$990.00
Joubert Syndrome via the INPP5E Gene$640.00$990.00
Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 Gene$640.00$990.00
Meckel-Gruber Syndrome / Joubert Syndrome via the TCTN2 Gene$640.00$990.00
Nephronophthisis and Joubert Syndrome via the NPHP1 Gene$640.00$990.00
Retinitis Pigmentosa via the PDE6A Gene$640.00$990.00
PDE6B Related Disorders via the PDE6B Gene$640.00$990.00
Nephronophthisis via the INVS / NPHP2 Gene$640.00$990.00
Nephronophthisis and Senior-Loken syndrome via the NPHP3 Gene$640.00$990.00
Nephronophthisis via the NPHP4 Gene$640.00$990.00
Achromatopsia via the PDE6C Gene$640.00$990.00
Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene$640.00$990.00
Sotos Syndrome via the NSD1 Gene$640.00$990.00
Cohen Syndrome via the VPS13B (COH1) Gene$640.00$990.00
Integrin Alpha 7-Related Congenital Myopathy via the ITGA7 Gene$640.00$990.00
Selenoprotein N, 1 via the SELENON/SEPN1 Gene$640.00$990.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNT3 Gene$640.00$990.00
Spinal Muscular Atrophy with Respiratory Distress Type 1 via the IGHMBP2 Gene$640.00$990.00
Myofibrillar Myopathy via the LDB3 (ZASP) Gene$640.00$990.00
Glycyl tRNA Synthetase-Related Disorders via the GARS Gene$640.00$990.00
Congenital Myasthenic Syndromes via the CHRNB1 Gene$640.00$990.00
Congenital Myasthenic Syndromes and Multiple Pterygium Syndrome via the CHRND Gene$640.00$990.00
Multiple Pterygium Syndrome via the CHRNG Gene$640.00$990.00
Congenital Myasthenic Syndrome via the MUSK Gene$640.00$990.00
Seipin-Related Disorders via the BSCL2 Gene$640.00$990.00
Holoprosencephaly-5 (Autosomal Dominant, Nonsyndromic) via the ZIC2 Gene$640.00$990.00
Holoprosencephaly-9 (Autosomal Dominant, Nonsyndromic) via the GLI2 Gene$640.00$990.00
Microform Holoprosencephaly (HPE10) via the DISP1 Gene$640.00$990.00
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 Gene$640.00$990.00
Neutral Lipid Storage Disease with Myopathy via the PNPLA2 Gene$640.00$990.00
Congenital Muscular Dystrophy, Megaconial Type via the CHKB Gene$640.00$990.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B3 Gene$640.00$990.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B4 Gene$640.00$990.00
Dynamin-2 Related Disorders via the DNM2 Gene$640.00$990.00
Type VI Collagenopathy via the COL6A2 Gene$640.00$990.00
Stuttering via the NAGPA Gene$640.00$990.00
Nemaline Myopathy 5 (Amish Nemaline Myopathy) via the TNNT1 Gene$640.00$990.00
Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) via the MEGF10 Gene$640.00$990.00
GLE1-Related Disorders via the GLE1 Gene$640.00$990.00
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E (LGMD1E) via the DNAJB6 Gene$640.00$990.00
Giant Axonal Neuropathy via the GAN Gene$640.00$990.00
Alagille Syndrome-1 via the JAG1 Gene$640.00$990.00
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VIPAS39 Gene$640.00$990.00
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VPS33B Gene$640.00$990.00
Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) / Osler-Weber-Rendu Disease via the ENG Gene$640.00$990.00
Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2) via the ACVRL1/ALK1 Gene$640.00$990.00
Xeroderma Pigmentosum via the ERCC3 Gene$640.00$990.00
Gray Platelet Syndrome via the NBEAL2 Gene$640.00$990.00
Xeroderma Pigmentosum via the ERCC4 Gene$640.00$990.00
Sick Sinus Syndrome and Brugada Syndrome via the HCN4 Gene$640.00$990.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the VCL Gene$640.00$990.00
Rothmund Thomson Syndrome via the RECQL4 Gene$640.00$990.00
Holoprosencephaly-11 via The CDON Gene$640.00$990.00
Compton-North Congenital Myopathy via the CNTN1 Gene$640.00$990.00
Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 Gene$640.00$990.00
Hirschsprung Disease (HSCR) via the RET Gene$640.00$990.00
TRPV4-related Disorders via the TRPV4 Gene$640.00$990.00
3-M Syndrome via the CUL7 Gene$640.00$990.00
COMP-Related Disorders via the COMP Gene$640.00$990.00
Meier-Gorlin Syndrome via the CDC6 Gene$640.00$990.00
Meier-Gorlin Syndrome via the CDT1 Gene$640.00$990.00
Meier-Gorlin Syndrome via the ORC1 Gene$640.00$990.00
Multiple Epiphyseal Dysplasia via the MATN3 Gene$640.00$990.00
Roberts Syndrome via the ESCO2 Gene$640.00$990.00
Schimke Immunoosseous Dysplasia via the SMARCAL1 Gene$640.00$990.00
Fanconi Anemia via the SLX4/FANCP Gene$640.00$990.00
Cranioectodermal Dysplasia 1 (CED1) via the IFT122 Gene$640.00$990.00
Hermansky-Pudlak Syndrome Type 7 (HPS7) via the DTNBP1 Gene$640.00$990.00
Oculofaciocardiodental Syndrome and Lenz Microphthalmia Syndrome via the BCOR Gene$640.00$990.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSC2 Gene$640.00$990.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSG2 Gene$640.00$990.00
Naxos Disease and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the JUP Gene$640.00$990.00
Primary Ciliary Dyskinesia via the DNAAF3 Gene$640.00$990.00
Xeroderma Pigmentosum via the ERCC5 Gene$640.00$990.00
Familial Limb Girdle Myasthenic Syndrome With Tubular Aggregates via the DPAGT1 Gene$640.00$990.00
Ellis-van Creveld Syndrome via the EVC Gene$640.00$990.00
Ellis-van Creveld Syndrome via the EVC2 Gene$640.00$990.00
Centronuclear Myopathy-4, Autosomal Dominant (CNM4) via the CCDC78 Gene$640.00$990.00
Epidermolysis Bullosa with Pyloric Atresia via the ITGB4 Gene$640.00$990.00
Miller Syndrome via the DHODH Gene$640.00
Dystroglycanopathy via the B3GALNT2 Gene$640.00$990.00
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene$640.00$990.00
Familial Hypercholesterolemia via the LDLR Gene$640.00$990.00
Distal Hereditary Motor Neuropathy, Type 7A via the SLC5A7 Gene$640.00$990.00
Treacher Collins Syndrome via the POLR1C Gene$640.00
Distal Arthrogryposis, Autosomal Recessive, Type 5D (DA5D) via the ECEL1 Gene$640.00$990.00
Cornelia de Lange Syndrome via the RAD21 Gene$640.00
Cornelia de Lange Syndrome via the HDAC8 Gene$640.00
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene$640.00$990.00
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene$640.00$990.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene$640.00$990.00
Spondylocostal Dysostosis via the TBX6 Gene$640.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 Gene$640.00$990.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene$640.00$990.00
Joubert Syndrome via the TMEM237 Gene$640.00$990.00
Retinitis Pigmentosa 35 (RP35) and Cone-Rod Dystrophy 10 (CORD10) via the SEMA4A Gene$640.00$990.00
Cockayne Syndrome via the ERCC8 Gene$640.00$990.00
Lung Cancer Susceptibility via the EGFR Gene$640.00$990.00
Parkinson's Disease, Juvenile via the PRKN/PARK2 Gene$640.00$990.00
Nemaline Myopathy via the KLHL40 Gene$640.00$990.00
Welander Distal Myopathy via the TIA1 Gene$640.00
Branchiootorenal syndrome via the EYA1 Gene$640.00$990.00
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via the OXCT1 Gene$640.00$990.00
Hirschsprung Disease, Cardiac Defects and Autonomic Dysfunction via the ECE1 Gene$640.00$990.00
Tubular Aggregate Myopathy via the STIM1 Gene$640.00$990.00
Hypothyroidism [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational & Nonautoimmune] via the TSHR Gene$640.00$990.00
Pseudohypoaldosteronism Type II via the CUL3 Gene$640.00$990.00
Pseudohypoaldosteronism Type II via the KLHL3 Gene$640.00$990.00
Pseudohypoaldosteronism Type II via the WNK4 Gene$640.00$990.00
Pseudohypoaldosteronism Type II via the WNK1 Gene$640.00$990.00
FGFR1-Related Disorders via the FGFR1 Gene$640.00$990.00
FGFR2-Related Disorders via the FGFR2 Gene$640.00$990.00
Long QT Syndrome and Jervell and Lange-Nielsen syndrome via the KCNQ1 Gene$640.00$990.00
Renal Coloboma Syndrome and Isolated Renal Hypoplasia via the PAX2 Gene$640.00$990.00
Amelogenesis Imperfecta with Gingival Hyperplasia Syndrome and Amelogenesis Imperfecta with Renal Syndrome via the FAM20A Gene$640.00$990.00
MFN2-Related Disorders via the MFN2 Gene$640.00$990.00
Familial Pityriasis Rubra Pilaris (PRP) via the CARD14 Gene$640.00$990.00
Glanzmann's Thrombasthenia via the ITGB3 Gene$640.00$990.00
Oculocerebrorenal Syndrome of Lowe (Lowe syndrome) and Dent Disease - 2 via the OCRL Gene$640.00$990.00
Glanzmann's Thrombasthenia via the ITGA2B Gene$640.00$990.00
Congenital Fibrinogen Deficiency via the FGB Gene$640.00$990.00
Congenital Fibrinogen Deficiency via the FGG Gene$640.00$990.00
Chronic Granulomatous Disease via the CYBB Gene$640.00$990.00
Wagner Syndrome via the VCAN Gene$640.00$990.00
Infantile Myofibromatosis and Idiopathic Basal Ganglia Calcification via the PDGFRB Gene$640.00
Hereditary Spherocytosis via the EPB42 Gene$640.00$990.00
Hypomyelination and Congenital Cataract (HCC) via the FAM126A Gene$640.00$990.00
Bartter Syndrome Type 1 via the SLC12A1 Gene$640.00$990.00
Marinesco-Sjogren Syndrome via the SIL1 Gene$640.00$990.00
FOXC1-Related Disorders via the FOXC1 Gene$640.00$990.00
Hypercalcemic and Hypocalcemic Disorders via the GNA11 Gene$640.00$990.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX3 Gene$640.00$990.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene$640.00$990.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX14 Gene$640.00$990.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the ACE Gene$640.00$990.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the REN Gene$640.00$990.00
Severe Combined Immunodeficiency/Omenn Syndrome via the IL7R Gene$640.00$990.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX16 Gene$640.00$990.00
X-linked Nance-Horan Syndrome and Congenital Cataract via the NHS Gene$640.00$990.00
Optic Atrophy and Hereditary Spastic Paraplegia via the SPG7 Gene$640.00$990.00
Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene$640.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF1 / LRRC50 Gene$640.00$990.00
Primary Ciliary Dyskinesia (PCD) via the CCDC39 Gene$640.00$990.00
Primary Ciliary Dyskinesia (PCD) via the CCDC40 Gene$640.00$990.00
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene$640.00$990.00
Primary Open Angle Glaucoma via the MYOC Gene$640.00$990.00
MFRP-Related Oculopathy via the MFRP Gene$640.00$990.00
Congenital Interstitial Lung Disease with Nephrotic Syndrome and Epidermolysis Bullosa (ILNEB) via the ITGA3 Gene$640.00$990.00
Hyper IgD Syndrome/Mevalonate Aciduria via the MVK Gene$640.00$990.00
Early-Onset Ataxia with Oculomotor Apraxia Type 1 via the APTX Gene$640.00$990.00
Refsum Disease via the PHYH Gene$640.00$990.00
Congenital Dyserythropoietic Anemia Type I via the C15orf41 Gene$640.00$990.00
Parkinson's Disease, Early Onset via the PINK1 Gene$640.00$990.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF2 Gene$640.00$990.00
Oculocutaneous Albinism Type 3 (OCAIII) via the TYRP1 Gene$640.00
Familial Episodic Pain Type 2 Syndrome via the SCN10A Gene$640.00
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene$640.00
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene$640.00$990.00
Brugada Syndrome via the CACNB2 Gene$680.00$990.00
Dent Disease via the CLCN5 Gene$640.00
Maturity Onset Diabetes of the Young (MODY) via the HNF1A Gene$640.00$990.00
Maturity Onset Diabetes of the Young (MODY) via the HNF4A Gene$640.00$990.00
Retinitis Pigmentosa via the RP1 Gene$640.00$990.00
Severe Congenital Neutropenia via the VPS45 Gene$640.00
Microcephaly, Lymphedema, and Chorioretinal Dysplasia (MLCRD) / Chorioretinal Dysplasia, Microcephaly, and Mental Retardation (CDMMR) / Familial Exudative Vitreoretinopathy (FEVR) via the KIF11 Gene$640.00$990.00
Osteopetrosis via the CA2 Gene$640.00$990.00
Distal Renal Tubular Acidosis, Autosomal Recessive, via the ATP6V0A4 Gene$640.00$990.00
Congenital Myopathy (Native American Myopathy) via the STAC3 Gene$640.00$990.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via the PAX8 Gene$640.00$990.00
Congenital Hypothyroidism (Central Hypothyroidism and Testicular Enlargement) via the IGSF1 Gene$640.00$990.00
Primary Ciliary Dyskinesia (PCD) via the CCDC114 Gene$640.00
Congenital Hypothyroidism (Thyroid Hormone Resistance) via the THRA Gene$640.00$990.00
Congenital Hypothyroidism and Neonatal Diabetes Mellitus via the GLIS3 Gene$640.00$990.00
Nephronophthisis and Situs Inversus via the ANKS6 Gene$640.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the SLC5A5/NIS Gene$640.00$990.00
Primary Ciliary Dyskinesia (PCD) via the LRRC6 Gene$640.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TPO Gene$640.00$990.00
Familial Isolated Hypoparathyroidism via the GCM2 Gene$640.00$990.00
Focal Segmental Glomerulosclerosis (FSGS) via the ANLN Gene$640.00$990.00
Phosphoglycerate Kinase Deficiency via the PGK1 Gene$640.00$990.00
SECISBP2-Related Disorders via the SECISBP2 Gene$640.00
Ectodermal Dysplasia via the KRT85 Gene$640.00
Atypical Hemolytic-Uremic Syndrome and Nephrotic Syndrome via the DGKE Gene$640.00$990.00
Homocystinuria, cblG Type, via the MTR Gene$640.00$990.00
Surfactant Protein B Deficiency via the SFTPB Gene$640.00$990.00
Homocystinuria, cblE Type, via the MTRR Gene$640.00$990.00
Maturity Onset Diabetes of the Young (MODY) via the PAX4 Gene$640.00$990.00
Congenital Erythropoietic Porphyria via the UROS Gene$640.00
Maturity Onset Diabetes of the Young (MODY) via the BLK Gene$640.00$990.00
Steroid-Resistant Nephrotic Syndrome (SRNS)/ Focal Segmental Glomerulosclerosis (FSGS) via the TRPC6 Gene$640.00$990.00
Cornelia de Lange Syndrome and Wiedemann-Steiner Syndrome via the KMT2A Gene$680.00
Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via the PCK1 Gene$640.00$990.00
Pyruvate Carboxylase Deficiency via the PC Gene$640.00$990.00
Focal Segmental Glomerulosclerosis (FSGS) via the ACTN4 Gene$640.00$990.00
Isolated Polycystic Liver Disease (PCLD) via the PRKCSH Gene$640.00$990.00
Hereditary Hemochromatosis via the SLC40A1 Gene$640.00$990.00
Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene$640.00$990.00
Hereditary Coproporphyria via the CPOX Gene$640.00$990.00
Congenital Cataracts via the BFSP1 Gene$640.00
Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene$640.00
Usher Syndrome Type 2C and Deafness, Autosomal Recessive 57 (DFNB57) via the PDZD7 Gene$640.00$990.00
OFD1-Related Disorders via the OFD1 Gene$640.00$990.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene$640.00$990.00
MYH9-Related Disorders via the MYH9 Gene$640.00$990.00
Hereditary Sensory Neuropathy, Type IE via the DNMT1 Gene$640.00$990.00
Facioscapulohumeral Muscular Dystrophy 2 via the SMCHD1 Gene$640.00$990.00
Autosomal Dominant Optic Atrophy (ADOA) or Optic Atrophy, Kjer-Type (OAK) and DOA Plus Syndrome (DOA+) via the OPA1 Gene$640.00$990.00
Treacher Collins Syndrome via the TCOF1 Gene$640.00
Mandibulofacial Dysostosis, Guion-Almeida Type via the EFTUD2 Gene$640.00
Mosaic Variegated Aneuploidy Syndrome via the BUB1B Gene$640.00$990.00
2q23.1 Microdeletion Syndrome and Autism Spectrum Disorder via the MBD5 Gene$640.00$990.00
Limb Girdle Muscular Dystrophy Type 2S (LGMD2S) via the TRAPPC11 Gene$640.00$990.00
Primary Congenital Glaucoma via the LTBP2 Gene$640.00$990.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Gene$640.00$990.00
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene$640.00$990.00
Scott Syndrome via the ANO6 Gene$640.00$990.00
Cone-Rod Dystrophy via the ADAM9 Gene$640.00$990.00
Cone-Rod Dystrophy via the CACNA2D4 Gene$640.00$990.00
Cone-Rod Dystrophy via the CDHR1 Gene$640.00$990.00
Hereditary Spherocytosis Type 1 via the ANK1 Gene$640.00$990.00
Combined Factor V and Factor VIII Deficiency via the LMAN1 Gene$640.00$990.00
Cone-Rod Dystrophy (CORDX3) via the CACNA1F Gene$640.00$990.00
Congenital Factor XIII deficiency via the F13A1 Gene$640.00$990.00
Hereditary Spherocytosis/Elliptocytosis via the SPTB Gene$640.00$990.00
Hereditary Spherocytosis via the SLC4A1 Gene$640.00$990.00
Hereditary Spherocytosis/Elliptocytosis via the SPTA1 Gene$640.00$990.00
Autosomal Dominant Hyper IgE Syndrome via the STAT3 Gene$640.00$990.00
Cone-Rod Dystrophy via the PITPNM3 Gene$640.00$990.00
Autosomal Dominant Cone-Rod Dystrophy via the RIMS1 Gene$640.00$990.00
Aminoacylase-1 Deficiency via the ACY1 Gene$640.00$990.00
Periventricular Heterotopia with Microcephaly via the ARFGEF2 Gene$640.00$990.00
Hemophilia A via the F8 Gene$640.00$990.00
Congenital Stationary Night Blindness and Retinal Degeneration via the SLC24A1 Gene$640.00$990.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFS1 Gene$640.00$990.00
C12orf65-Associated Optic Atrophy via the C12orf65 Gene$640.00$990.00
Infantile Cerebellar-Retinal Degeneration the ACO2 Gene$640.00$990.00
Spastic Ataxia with Optic Atrophy (SPAX4) via the MTPAP Gene$640.00$990.00
Familial Cold Autoinflammatory Syndrome 2 via the NLRP12 Gene$640.00$990.00
Majeed Syndrome via the LPIN2 Gene$640.00$990.00
Congenital Dyserythropoietic Anemia Type II via the SEC23B Gene$640.00$990.00
Congenital Dyserythropoietic Anemia Type I via the CDAN1 Gene$640.00$990.00
Ocular Albinism (OA1) via the GPR143 Gene$640.00
Oculocutaneous Albinism Type 4 (OCAIV) via the SLC45A2 Gene$640.00
Oculocutaneous Albinism in Griscelli syndrome via the MYO5A Gene$640.00
Kabuki Syndrome via the KMT2D Gene$680.00$990.00
Craniosynostosis via the TCF12 Gene$640.00
Rubinstein-Taybi Syndrome via the CREBBP Gene$640.00$990.00
Rubinstein-Taybi Syndrome via the EP300 Gene$640.00$990.00
Floating-Harbor Syndrome via the SRCAP Gene$640.00$990.00
Kabuki Syndrome via the KDM6A Gene$640.00$990.00
Deafness, X-linked 6 (DFNX6) via the COL4A6 Gene$640.00$990.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX11B Gene$640.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the DNM1L Gene$640.00
Congenital Bile Acid Synthesis Defect-5 via the ABCD3 Gene$640.00
Nemaline Myopathy 9 via the KLHL41 Gene$640.00$990.00
Netherton Syndrome via the SPINK5 Gene$640.00$990.00
NOTCH2-Related Disorders via the NOTCH2 Gene$640.00$990.00
Autosomal Recessive Hyper IgE Syndrome via the DOCK8 Gene$640.00$990.00
TYK2 Deficiency via the TYK2 Gene$640.00
Congenital Dyserythropoietic Anemia Type IV via the KLF1 Gene$640.00$990.00
Chronic Granulomatous Disease via the NCF4 Gene$640.00
Neuronal Ceroid Lipofuscinosis 12 via the ATP13A2 Gene$640.00
Adams-Oliver Syndrome via the DOCK6 Gene$640.00
Deafness, Autosomal Recessive 9 (DFNB9) via the OTOF Gene$640.00$990.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the TRDN Gene$640.00
Brugada Syndrome via the KCND3 Gene$640.00
Limb Girdle Muscular Dystrophy Type 1F via the TNPO3 Gene$640.00$990.00
Deafness, Autosomal Recessive 3 (DFNB3) via the MYO15A Gene$640.00$990.00
Deafness, Autosomal Dominant 12 (DFNA12) and Deafness, Autosomal Recessive 21 (DFNB21) via the TECTA Gene$640.00$990.00
Deafness, Autosomal Dominant 36 (DFNA36) and Deafness, Autosomal Recessive 7 (DFNB7) via the TMC1 Gene$640.00$990.00
Deafness, Autosomal Dominant 2A (DFNA2A) via the KCNQ4 Gene$640.00$990.00
SUCLG2-Related Mitochondrial DNA Depletion Syndrome via the SUCLG2 Gene$640.00$990.00
Deafness, Autosomal Dominant 22 (DFNA22) and Deafness, Autosomal Recessive 37 (DFNB37) via the MYO6 Gene$640.00$990.00
Nephronophthisis and Senior-Loken Syndrome via the CEP164 Gene$640.00
Intrahepatic Cholestasis via the ABCB4 Gene$640.00$990.00
Intrahepatic Cholestasis via the ATP8B1 Gene$640.00$990.00
Pierson Syndrome and Congenital Nephrotic Syndrome via the LAMB2 Gene$640.00$990.00
Isolated Polycystic Liver Disease (PCLD) via the SEC63 Gene$640.00$990.00
Steroid-Resistant Nephrotic Syndrome (SRNS) via the PLCE1 Gene$640.00$990.00
Congenital Bile Acid Synthesis Defect Type 1 via the HSD3B7 Gene$640.00$990.00
Deafness, Autosomal Recessive 59 (DFNB59) via the PJVK (DFNB59) Gene$640.00$990.00
Congenital Bile Acid Synthesis Defect Type 2 via the AKR1D1 Gene$640.00$990.00
Deafness, Autosomal Recessive 35 (DFNB35) via the ESRRB Gene$640.00$990.00
Deafness, Autosomal Recessive 42 (DFNB42) via the ILDR1 Gene$640.00$990.00
Deafness, Autosomal Recessive 28 (DFNB28) via the TRIOBP Gene$640.00$990.00
Deafness, Autosomal Dominant 4A (DFNA4A) via the MYH14 Gene$640.00$990.00
Deafness, Autosomal Recessive 30 (DFNB30) via the MYO3A Gene$640.00$990.00
Deafness, Autosomal Dominant 44 (DFNA44) via the CCDC50 Gene$640.00$990.00
Brugada Syndrome via the CACNA2D1 Gene$640.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the MYH6 Gene$640.00$990.00
Fanconi Anemia via the FANCM Gene$640.00$990.00
Glycogen Storage Disease Type IX via the PHKB Gene$640.00$990.00
Joubert Syndrome via the AHI1 Gene$640.00$990.00
Joubert and Meckel-Gruber Syndromes via the RPGRIP1L Gene$640.00$990.00
Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene$640.00$990.00
Usher Syndrome Type 2 via the ADGRV1 (GPR98) Gene$640.00$990.00
MYH3-Related Distal Arthrogryposis via the MYH3 Gene$640.00$990.00
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene$640.00$990.00
Myofibrillar Myopathy via the FLNC Gene$640.00$990.00
Dynactin-Related Disorders via the DCTN1 Gene$640.00$990.00
Familial Limb Girdle Myasthenic Syndrome via the AGRN Gene$640.00$990.00
Type VI Collagenopathy via the COL6A1 Gene$640.00$990.00
Type VI Collagenopathy via the COL6A3 Gene$640.00$990.00
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via the SCN4A Gene$640.00$990.00
Glycogen Storage Disease Type IX via the PHKA2 Gene$640.00$990.00
Cantu Syndrome via the ABCC9 Gene$640.00$990.00
Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3) via the UNC13D Gene$640.00$990.00
Glycogen Storage Disease Type IX via the PHKA1 Gene$640.00$990.00
Cockayne Syndrome via the ERCC6 Gene$640.00$990.00
Werner Syndrome via the WRN Gene$640.00$990.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene$640.00$990.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive, via the COL9A2 Gene$640.00$990.00
Multiple Epiphyseal Dysplasia via the COL9A3 Gene$640.00$990.00
Stickler Syndrome Type II, Marshall Syndrome, and Fibrochondrogenesis via the COL11A1 Gene$640.00$990.00
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene$640.00$990.00
Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146$640.00$990.00
Cornelia de Lange Syndrome via the NIPBL Gene$640.00$990.00
Cornelia de Lange Syndrome via the SMC3 Gene$640.00$990.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene$640.00$990.00
Alport Syndrome (AS) via the COL4A4 Gene$640.00$990.00
Joubert Syndrome via the CPLANE1 (C5orf42) Gene$640.00$990.00
Charcot Marie Tooth Type 4J via the FIG4 Gene$640.00$990.00
Stargardt disease (STGD), Fundus Flavimaculatus (FFM) or Retinal Dystrophy, Early-Onset Severe via the ABCA4 Gene$890.00$990.00
'Bull's Eye' Macular Dystrophy (BEM), Cone-Rod Dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene$640.00$990.00
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene$640.00$990.00
RYR1-Related Congenital Myopathies via the RYR1 Gene$640.00$990.00
von Willebrand Disease Types 1, 2, and 3 via the VWF Gene$850.00$990.00
Timothy Syndrome and Brugada Syndrome via the CACNA1C Gene$640.00$990.00
Long QT Syndrome via the ANK2 Gene$640.00$990.00
Primary Ciliary Dyskinesia (PCD) via the DNAH11 Gene$640.00$990.00
Long QT Syndrome via the AKAP9 Gene$640.00$990.00
Deafness, Autosomal Dominant 10 (DFNA10) via the EYA4 Gene$640.00$990.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene$640.00$990.00
Bardet-Biedl Syndrome via the BBS5 Gene$640.00$990.00
Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 Gene$640.00$990.00
Charcot-Marie-Tooth disease, axonal, type 20, Spinal muscular atrophy with lower extremity predominance and Mental retardation, autosomal dominant type 13 via the DYNC1H1 Gene$640.00
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene$640.00$990.00
Deafness, Autosomal Recessive 22 (DFNB22) via the OTOA Gene$640.00$990.00
Short-Rib-Polydactyly Syndrome via the DYNC2H1 Gene$640.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TG Gene$640.00$990.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene$640.00$990.00
Deafness, Autosomal Recessive 39 (DFNB39) via the HGF Gene$640.00$990.00
Primary Ciliary Dyskinesia (PCD) via the DNAH8 Gene$640.00
Atrial Fibrillation via the SCN2B Gene$640.00
CHOPS Syndrome via the AFF4 Gene$640.00
Cataract 10, Multiple Types (CTRCT10) via the CRYBA1 Gene$640.00
Long QT Syndrome via the CALM2 Gene$640.00
Aicardi-Goutières Syndrome 7 and Singleton-Merton Syndrome 1 via the IFIH1 Gene$640.00
Deafness, Autosomal Dominant 51 (DFNA51) via the TJP2 Gene$640.00$990.00
Focal Segmental Glomerulosclerosis (FSGS) via the CD2AP Gene$640.00$990.00
Cystinuria via the SLC3A1 Gene$640.00
Cystinuria via the SLC7A9 Gene$640.00
Atrial Fibrillation Syndrome via the KCNE5 Gene$640.00
Spastic Paraplegia 3A via the ATL1 Gene$640.00
Methylmalonic Aciduria and Homocystinuria, cblF type, via the LMBRD1 Gene$640.00$990.00
Variegate Porphyria via the PPOX Gene$640.00$990.00
TK2-Related Mitochondrial DNA Depletion Syndrome via the TK2 Gene$640.00$990.00
SUCLG1-Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLG1 Gene$640.00$990.00
Hereditary Sensory Neuropathy with Spastic Paraplegia via the CCT5 Gene$640.00
Charcot Marie Tooth Type 2U via the MARS Gene$640.00$990.00
Glycine N-Methyltransferase Deficiency via the GNMT Gene$640.00
Sitosterolemia via the ABCG8 Gene$640.00
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$640.00$990.00
Factor X Deficiency via the F10 Gene$640.00$990.00
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease via the TYMP Gene$640.00$990.00
Autosomal Dominant Progressive External Ophthalmoplegia via the DNA2 Gene$640.00$990.00
Hereditary Xerocytosis via the PIEZO1 Gene$640.00
Myotonia Congenita via the CLCN1 Gene$640.00
Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via the GRHL2 Gene$640.00$990.00
Deafness, Autosomal Recessive 61 (DFNB61) via the SLC26A5 Gene$640.00$990.00
Progressive Familial Heart Block via the TRPM4 Gene$640.00
Kenny-Caffey Syndrome Type 1 via the TBCE Gene$640.00$990.00
Proximal Renal Tubular Acidosis with Ocular Abnormalities via the SLC4A4 Gene$640.00
Distal Arthrogryposis/Gordon Syndrome via the PIEZO2 Gene$640.00
3-Methylglutaconic Aciduria Type I via the AUH Gene$640.00$990.00
Galloway-Mowat Syndrome via the WDR73 Gene$640.00
Surfactant Deficiency via the ABCA3 Gene$640.00$990.00
Argininemia via the ARG1 Gene$640.00$990.00
SLC25A13-Related Disorders via the SLC25A13 Gene$640.00$990.00
Brugada Syndrome via the SLMAP Gene$640.00
Distal Arthrogryposis 1B via the MYBPC1 Gene$640.00
Primary Ciliary Dyskinesia (PCD) via the SPAG1 Gene$640.00
Primary Ciliary Dyskinesia (PCD) via the CCDC65 Gene$640.00
Pediatric Granulomatous Arthritis via the NOD2 Gene$640.00
DITRA via the IL36RN Gene$640.00$990.00
HCFC1-Related Disorders via the HCFC1 Gene$640.00
Methylmalonate Semialdehyde Dehydrogenase Deficiency via the ALDH6A1 Gene$640.00
Transcobalamin II Deficiency via the TCN2 Gene$640.00
Nephrotic Syndrome via the KANK1 Gene$640.00
Nephrotic Syndrome or Palmoplantar Keratoderma and Woolly Hair via the KANK2 Gene$640.00
Fanconi Anemia via the FANCD2 Gene$960.00$990.00
Steroid-Resistant Nephrotic Syndrome via the XPO5 Gene$640.00
Steroid-Resistant Nephrotic Syndrome and XX Female Gonadal Dysgenesis via the NUP107 Gene$640.00
Steroid-Resistant Nephrotic Syndrome via the NUP93 Gene$640.00
Steroid-Resistant Nephrotic Syndrome via the NUP205 Gene$640.00
Cataract Type 39 via the CRYGB Gene$640.00
Charcot-Marie-Tooth Autosomal Dominant Intermediate C via the YARS Gene$640.00$990.00
Glycogen Storage Disease Type 0 via the Glycogen Synthase 2 (GYS2) Gene$640.00$990.00
KARS-Related Disorders via the KARS Gene$640.00$990.00
Non-Syndromic Monogenic Obesity via the LEPR Gene$640.00$990.00
Non-Syndromic Monogenic Obesity via the POMC Gene$640.00
Non-Syndromic Monogenic Obesity via the PCSK1 Gene$640.00$990.00
COL2A1-Related Disorders via the COL2A1 Gene$640.00$990.00
Milroy Disease (Lymphedema Type I) via the FLT4 Gene$640.00$990.00
Glomerulopathy with Fibronectin Deposits via the FN1 Gene$640.00
Nemaline Myopathy 10 via the LMOD3 Gene$640.00
Congenital Generalized Lipodystrophy (CGL) via the CAVIN1 (PTRF) Gene$640.00
Carnitine-Acylcarnitine Translocase Deficiency via the SLC25A20 Gene$640.00$990.00
Parkinson Disease via the LRRK2 Gene$640.00$990.00
Fanconi Anemia via the RAD51/FANCR Gene$640.00
Charcot-Marie-Tooth Type 4B1 via the MTMR2 Gene$640.00$990.00
Hypercalciuria via the ADCY10 Gene$640.00
Charcot-Marie-Tooth Autosomal Dominant Intermediate F via the GNB4 Gene$640.00$990.00
Primary Ciliary Dyskinesia (PCD) via the DNAH1 Gene$640.00$990.00
Parkinson’s Disease via the SNCA Gene$640.00$990.00
CADASIL2 and CARASIL via the HTRA1 Gene$640.00
Charcot-Marie-Tooth Type 4B3 via the SBF1 Gene$640.00$990.00
Xanthinuria Type I via the XDH Gene$640.00$990.00
Charcot-Marie-Tooth Type 4B2 via the SBF2 Gene$640.00$990.00
Vitreoretinopathy, Neovascular Inflammatory via the CAPN5 Gene$640.00$990.00
Charcot-Marie-Tooth Type X-linked Dominant 6 via the PDK3 Gene$640.00$990.00
Charcot-Marie-Tooth Type 4C via the SH3TC2 Gene$640.00$990.00
Primary Ciliary Dyskinesia (PCD) via the RSPH1 Gene$640.00
Primary Ciliary Dyskinesia (PCD) via the DRC1 Gene$640.00
CADASIL1 via the NOTCH3 Gene$640.00
Parkinson Disease via the FBXO7 Gene$640.00
KIF1A-Related Disorders via the KIF1A Gene$640.00
NBAS-Related Disorders via the NBAS Gene$640.00
Infantile Liver Failure Syndrome via the LARS Gene$640.00
Charcot-Marie-Tooth Type 2R via the TRIM2 Gene$640.00$990.00
Pontocerebellar Hypoplasia via the TSEN15 Gene$640.00
Thrombocytopenia via the GFI1B Gene$640.00
Hypophosphatemic Rickets with Hypercalciuria via the SLC34A3 Gene$640.00
Deafness, Autosomal Dominant 9 (DFNA9) and Autosomal Recessive Hearing Loss via the COCH Gene$640.00$990.00

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NextGen

Available Test Methods

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