Diseases we screen for
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- Abetalipoproteinemia (MTTP)
- Achromatopsia (CNGB3)
- Acrodermatitis Enteropathica (SLC39A4)
- Acute Infantile Liver Failure (TRMU)
- Acyl-CoA Oxidase I Deficiency (ACOX1)
- Adenosine Deaminase Deficiency (ADA)
- Adrenoleukodystrophy, X-Linked (ABCD1)
- Aicardi-Goutieres Syndrome (SAMHD1)
- Alpha-Mannosidosis (MAN2B1)
- Alpha-Thalassemia (HBA1 and HBA2)
- Alpha-Thalassemia Mental Retardation Syndrome (ATRX)
- Alport Syndrome (COL4A3-Related) (COL4A3)
- Alport Syndrome (COL4A4-Related) (COL4A4)
- Alport Syndrome (COL4A5-Related) (COL4A5)
- Alstrom Syndrome (ALMS1)
- Andermann Syndrome (SLC12A6)
- Argininosuccinic Aciduria (ASL)
- Aromatase Deficiency (CYP19A1)
- Arthrogryposis, Mental Retardation, and Seizures (SLC35A3)
- Asparagine Synthetase Deficiency (ASNS)
- Aspartylglycosaminuria (AGA)
- Ataxia with Isolated Vitamin E Deficiency (TTPA)
- Ataxia-Telangiectasia (ATM)
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS)
- Bardet-Biedl Syndrome (BBS1-Related) (BBS1)
- Bardet-Biedl Syndrome (BBS10-Related) (BBS10)
- Bardet-Biedl Syndrome (BBS12-Related) (BBS12)
- Bardet-Biedl Syndrome (BBS2-Related) (BBS2)
- Bare Lymphocyte Syndrome, Type II (CIITA)
- Bartter Syndrome, Type 4A (BSND)
- Bernard-Soulier Syndrome, Type A1 (GP1BA)
- Bernard-Soulier Syndrome, Type C (GP9)
- Beta-Globin-Related Hemoglobinopathies (HBB)
- Beta-Ketothiolase Deficiency (ACAT1)
- Bilateral Frontoparietal Polymicrogyria (GPR56)
- Biotinidase Deficiency (BTD)
- Bloom Syndrome (BLM)
- Canavan Disease (ASPA)
- Carbamoylphosphate Synthetase I Deficiency (CPS1)
- Carnitine Palmitoyltransferase IA Deficiency (CPT1A)
- Carnitine Palmitoyltransferase II Deficiency (CPT2)
- Carpenter Syndrome (RAB23)
- Cartilage-Hair Hypoplasia (RMRP)
- Cerebral Creatine Deficiency Syndrome 1 (SLC6A8)
- Cerebral Creatine Deficiency Syndrome 2 (GAMT)
- Cerebrotendinous Xanthomatosis (CYP27A1)
- Charcot-Marie-Tooth Disease, Type 4D (NDRG1)
- Charcot-Marie-Tooth Disease, Type 5 / Arts syndrome (PRPS1)
- Charcot-Marie-Tooth Disease, X-Linked (GJB1)
- Choreoacanthocytosis (VPS13A)
- Choroideremia (CHM)
- Chronic Granulomatous Disease (CYBA-related) (CYBA)
- Chronic Granulomatous Disease (CYBB-related) (CYBB)
- Citrin Deficiency (SLC25A13)
- Citrullinemia, Type 1 (ASS1)
- Cohen Syndrome (VPS13B)
- Combined Malonic and Methylmalonic Aciduria (ACSF3)
- Combined Oxidative Phosphorylation Deficiency 1 (GFM1)
- Combined Oxidative Phosphorylation Deficiency 3 (TSFM)
- Combined Pituitary Hormone Deficiency 2 (PROP1)
- Combined Pituitary Hormone Deficiency 3 (LHX3)
- Combined SAP Deficiency (PSAP)
- Congenital Adrenal Hyperplasia (CAH) due to 21-Alpha-Hydroxylase Deficiency (CYP21A2)
- Congenital Adrenal Hyperplasia due to 17-Alpha-Hydroxylase Deficiency (CYP17A1)
- Congenital Amegakaryocytic Thrombocytopenia (MPL)
- Congenital Disorder of Glycosylation, Type Ia (PMM2)
- Congenital Disorder of Glycosylation, Type Ib (MPI)
- Congenital Disorder of Glycosylation, Type Ic (ALG6)
- Congenital Insensitivity to Pain with Anhidrosis (NTRK1)
- Congenital Myasthenic Syndrome (CHRNE-Related) (CHRNE)
- Congenital Myasthenic Syndrome (RAPSN-Related) (RAPSN)
- Congenital Neutropenia (HAX1-Related) (HAX1)
- Congenital Neutropenia (VPS45-Related) (VPS45)
- Corneal Dystrophy and Perceptive Deafness (SLC4A11)
- Corticosterone Methyloxidase Deficiency (CYP11B2)
- Cystic Fibrosis (CFTR)
- Cystinosis (CTNS)
- Fabry Disease (GLA)
- Factor IX Deficiency (F9)
- Factor XI Deficiency (F11)
- Familial Autosomal Recessive Hypercholesterolemia (LDLRAP1)
- Familial Dysautonomia (IKBKAP)
- Familial Hypercholesterolemia (LDLR)
- Familial Hyperinsulinism (ABCC8-Related) (ABCC8)
- Familial Hyperinsulinism (KCNJ11-Related) (KCNJ11)
- Familial Mediterranean Fever (MEFV)
- Fanconi Anemia, Group A (FANCA)
- Fanconi Anemia, Group C (FANCC)
- Fanconi Anemia, Group G (FANCG)
- Fragile X Syndrome (FMR1)
- Fumarase Deficiency (FH)
- Galactokinase Deficiency (GALK1)
- Galactosemia (GALT)
- Gaucher Disease (GBA)
- Gitelman Syndrome (SLC12A3)
- Glutaric Acidemia, Type I (GCDH)
- Glutaric Acidemia, Type IIa (ETFA)
- Glutaric Acidemia, Type IIc (ETFDH)
- Glycine Encephalopathy (AMT-Related) (AMT)
- Glycine Encephalopathy (GLDC-Related) (GLDC)
- Glycogen Storage Disease, Type Ia (G6PC)
- Glycogen Storage Disease, Type Ib (SLC37A4)
- Glycogen Storage Disease, Type II (GAA)
- Glycogen Storage Disease, Type III (AGL)
- Glycogen Storage Disease, Type IV / Adult Polyglucosan Body Disease (GBE1)
- Glycogen Storage Disease, Type V (PYGM)
- Glycogen Storage Disease, Type VII (PFKM)
- GRACILE Syndrome and Other BCS1L-Related Disorders (BCS1L)
- Hemochromatosis, Type 2A (HFE2)
- Hemochromatosis, Type 3 (TFR2)
- Hereditary Fructose Intolerance (ALDOB)
- Hereditary Spastic Paraparesis 49 (TECPR2)
- Hermansky-Pudlak Syndrome, Type 1 (HPS1)
- Hermansky-Pudlak Syndrome, Type 3 (HPS3)
- HMG-CoA Lyase Deficiency (HMGCL)
- Holocarboxylase Synthetase Deficiency (HLCS)
- Homocystinuria (CBS-Related) (CBS)
- Homocystinuria due to MTHFR Deficiency (MTHFR)
- Homocystinuria, cblE Type (MTRR)
- Hydrolethalus Syndrome (HYLS1)
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (SLC25A15)
- Hypohidrotic Ectodermal Dysplasia 1 (EDA)
- Hypophosphatasia (ALPL)
- Lamellar Ichthyosis, Type 1 (TGM1)
- Leber Congenital Amaurosis 10 and Other CEP290-Related Ciliopathies (CEP290)
- Leber Congenital Amaurosis 13 (RDH12)
- Leber Congenital Amaurosis 2 / Retinitis pigmentosa 20 (RPE65)
- Leber Congenital Amaurosis 5 (LCA5)
- Leber Congenital Amaurosis 8 / Retinitis Pigmentosa 12 / Pigmented Paravenous Chorioretinal Atrophy (CRB1)
- Leigh Syndrome, French-Canadian Type (LRPPRC)
- Lethal Congenital Contracture Syndrome 1 / Lethal Arthrogryposis with Anterior Horn Cell Disease (GLE1)
- Leukoencephalopathy with Vanishing White Matter (EIF2B5)
- Limb-Girdle Muscular Dystrophy, Type 2A (CAPN3)
- Limb-Girdle Muscular Dystrophy, Type 2B (DYSF)
- Limb-Girdle Muscular Dystrophy, Type 2C (SGCG)
- Limb-Girdle Muscular Dystrophy, Type 2D (SGCA)
- Limb-Girdle Muscular Dystrophy, Type 2E (SGCB)
- Limb-Girdle Muscular Dystrophy, Type 2I (FKRP)
- Lipoamide Dehydrogenase Deficiency (DLD)
- Lipoid Adrenal Hyperplasia (STAR)
- Lipoprotein Lipase Deficiency (LPL)
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA)
- Lysinuric Protein Intolerance (SLC7A7)
- Maple Syrup Urine Disease, Type 1a (BCKDHA)
- Maple Syrup Urine Disease, Type 1b (BCKDHB)
- Meckel syndrome 1 / Bardet-Biedl Syndrome 13 (MKS1)
- Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)
- Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1)
- Menkes Disease (ATP7A)
- Metachromatic Leukodystrophy (ARSA)
- Methylmalonic Acidemia (MMAA-Related) (MMAA)
- Methylmalonic Acidemia (MMAB-Related) (MMAB)
- Methylmalonic Acidemia (MUT-Related) (MUT)
- Methylmalonic Aciduria and Homocystinuria, Cobalamin C Type (MMACHC)
- Methylmalonic Aciduria and Homocystinuria, Cobalamin D Type (MMADHC)
- Microphthalmia / Anophthalmia (VSX2)
- Mitochondrial Complex I Deficiency (ACAD9-Related) (ACAD9)
- Mitochondrial Complex I Deficiency (NDUFAF5-Related) (NDUFAF5)
- Mitochondrial Complex I Deficiency (NDUFS6-Related) (NDUFS6)
- Mitochondrial DNA Depletion Syndrome 6 / Navajo Neurohepatopathy (MPV17)
- Mitochondrial Myopathy and Sideroblastic Anemia 1 (PUS1)
- Mucolipidosis II / IIIA (GNPTAB)
- Mucolipidosis III Gamma (GNPTG)
- Mucolipidosis IV (MCOLN1)
- Mucopolysaccharidosis Type I (IDUA)
- Mucopolysaccharidosis Type II (IDS)
- Mucopolysaccharidosis Type IIIA (SGSH)
- Mucopolysaccharidosis Type IIIB (NAGLU)
- Mucopolysaccharidosis Type IIIC (HGSNAT)
- Mucopolysaccharidosis Type IIID (GNS)
- Mucopolysaccharidosis Type IVb / GM1 Gangliosidosis (GLB1)
- Mucopolysaccharidosis type VI (ARSB)
- Mucopolysaccharidosistype IX (HYAL1)
- Multiple Sulfatase Deficiency (SUMF1)
- Muscle-Eye-Brain Disease and Other POMGNT1-Related Congenital Muscular Dystrophy-Dystroglycanopathies (POMGNT1)
- Myoneurogastrointestinal Encephalopathy (TYMP)
- Myotubular Myopathy 1 (MTM1)
- N-Acetylglutamate Synthase Deficiency (NAGS)
- Nemaline Myopathy 2 (NEB)
- Nephrogenic Diabetes Insipidus, Type II (AQP2)
- Nephrotic Syndrome (NPHS1-Related) / Congenital Finnish Nephrosis (NPHS1)
- Nephrotic Syndrome (NPHS2-Related) / Steroid-Resistant Nephrotic Syndrome (NPHS2)
- Neuronal Ceroid-Lipofuscinosis (CLN3-Related) (CLN3)
- Neuronal Ceroid-Lipofuscinosis (CLN5-Related) (CLN5)
- Neuronal Ceroid-Lipofuscinosis (CLN6-Related) (CLN6)
- Neuronal Ceroid-Lipofuscinosis (CLN8-Related) (CLN8)
- Neuronal Ceroid-Lipofuscinosis (MFSD8-Related) (MFSD8)
- Neuronal Ceroid-Lipofuscinosis (PPT1-Related) (PPT1)
- Neuronal Ceroid-Lipofuscinosis (TPP1-Related) (TPP1)
- Niemann-Pick Disease (SMPD1-Related) (SMPD1)
- Niemann-Pick Disease, Type C (NPC1-Related) (NPC1)
- Niemann-Pick Disease, Type C (NPC2-Related) (NPC2)
- Nijmegen Breakage Syndrome (NBN)
- Non-Syndromic Hearing Loss (GJB2-Related) (GJB2)
- Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome (WNT10A)
- Omenn Syndrome (RAG2-Related) (RAG2)
- Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type (DCLRE1C)
- Ornithine Aminotransferase Deficiency (OAT)
- Ornithine Transcarbamylase Deficiency (OTC)
- Osteopetrosis 1 (TCIRG1)
- Pendred Syndrome (SLC26A4)
- Phenylalanine Hydroxylase Deficiency (PAH)
- Polycystic Kidney Disease, Autosomal Recessive (PKHD1)
- Polyglandular Autoimmune Syndrome, Type 1 (AIRE)
- Pontocerebellar Hypoplasia, Type 1A (VRK1)
- Pontocerebellar Hypoplasia, Type 6 (RARS2)
- Primary Carnitine Deficiency (SLC22A5)
- Primary Ciliary Dyskinesia (DNAH5-Related) (DNAH5)
- Primary Ciliary Dyskinesia (DNAI1-Related) (DNAI1)
- Primary Ciliary Dyskinesia (DNAI2-related) (DNAI2)
- Primary Hyperoxaluria, Type 1 (AGXT)
- Primary Hyperoxaluria, Type 2 (GRHPR)
- Primary Hyperoxaluria, Type 3 (HOGA1)
- Progressive Cerebello-Cerebral Atrophy (SEPSECS)
- Progressive Familial Intrahepatic Cholestasis, Type 2 (ABCB11)
- Propionic Acidemia (PCCA-Related) (PCCA)
- Propionic Acidemia (PCCB-Related) (PCCB)
- Pycnodysostosis (CTSK)
- Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHA1)
- Pyruvate Dehydrogenase E1-Beta Deficiency (PDHB)
- Renal Tubular Acidosis and Deafness (ATP6V1B1)
- Retinitis Pigmentosa 25 (EYS)
- Retinitis Pigmentosa 26 (CERKL)
- Retinitis Pigmentosa 28 (FAM161A)
- Retinitis Pigmentosa 59 (DHDDS)
- Rhizomelic Chondrodysplasia Punctata, Type 1 (PEX7)
- Rhizomelic Chondrodysplasia Punctata, Type 3 (AGPS)
- Roberts Syndrome (ESCO2)
- Salla Disease (SLC17A5)
- Sandhoff Disease (HEXB)
- Schimke Immunoosseous Dysplasia (SMARCAL1)
- Segawa Syndrome (TH)
- Sjogren-Larsson Syndrome (ALDH3A2)
- Smith-Lemli-Opitz Syndrome (DHCR7)
- Spinal Muscular Atrophy (SMN1)
- Spondylothoracic Dysostosis (MESP2)
- Steel Syndrome (COL27A1)
- Stuve-Wiedemann Syndrome (LIFR)
- Sulfate Transporter-Related Osteochondrodysplasia (SLC26A2)