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Carrier Screening Extended

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Tiriamų ligų sąrašas (abėcėline tvarka; skliausteliuose nurodomas su liga susijęs genas):

  • 17-beta hydroxysteroid dehydrogenase 3 deficiency (HSD17B3)
  • 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency (HSD3B2)
  • 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency (HMGCL)
  • 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency (MCCC1)
  • 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency (MCCC2)
  • 5-alpha reductase deficiency (SRD5A2)
  • 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency (PTS)
  • Abetalipoproteinemia (MTTP)
  • Achalasia-Addisonianism-Alacrima Syndrome (AAAS)
  • Achondrogenesis, Type 1B (SLC26A2)
  • Achromatopsia, CNGA3-Related (CNGA3)
  • Achromatopsia, CNGB3-Related (CNGB3)
  • Acyl-CoA Oxidase I Deficiency (ACOX1)
  • Acrodermatitis Enteropathica (SLC39A4)
  • Acute Infantile Liver Failure, TRMU-Related (TRMU)
  • Adrenoleukodystrophy, X-Linked (ABCD1)
  • Agenesis of the Corpus Callosum with Peripheral Neuropathy (Andermann Syndrome) (SLC12A6)
  • Aicardi-Goutieres Syndrome (SAMHD1)
  • Aicardi-Goutieres syndrome, RNASEH2C-related (RNASEH2C)
  • Aicardi-Goutieres syndrome, TREX1-related (TREX1)
  • Alkaptonuria (HGD)
  • Alpha-1-Antitrypsin Deficiency (SERPINA1)
  • Alpha-Mannosidosis (MAN2B1)
  • Alpha-Thalassemia (HBA1)
  • Alpha-Thalassemia (HBA2)
  • Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked (ATRX)
  • Alport Syndrome, COL4A3-Related (COL4A3)
  • Alport Syndrome, COL4A4-Related (COL4A4)
  • Alport Syndrome, X-Linked (COL4A5)
  • Alstrom Syndrome (ALMS1)
  • Androgen insensitivity syndrome, X-Linked (AR)
  • Argininemia (ARG1)
  • Argininosuccinate Lyase Deficiency (ASL)
  • Aromatase Deficiency (CYP19A1)
  • Arts syndrome, X-Linked (PRPS1)
  • Asparagine Synthetase Deficiency (ASNS)
  • Aspartylglucosaminuria (AGA)
  • Ataxia with Vitamin E Deficiency (TTPA)
  • Ataxia-Telangiectasia (ATM)
  • Ataxia-telangiectasia-like disorder 1 (MRE11)
  • Autism Spectrum, Epilepsy and Arthrogryposis (SLC35A3)
  • Autoimmune polyendocrinopathy syndrome, type I (AIRE)
  • Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS)
  • Bardet-Biedl Syndrome 1 (BBS1)
  • Bardet-Biedl Syndrome 10 (BBS10)
  • Bardet-Biedl syndrome 11 (TRIM32)
  • Bardet-Biedl Syndrome 12 (BBS12)
  • Bardet-Biedl Syndrome 2 (BBS2)
  • Bardet-Biedl Syndrome 4 (BBS4)
  • Bardet-Biedl Syndrome 6 (MKKS)
  • Bardet-Biedl Syndrome 9 (BBS9)
  • Bare Lymphocyte Syndrome, CIITA-Related (CIITA)
  • Bartter syndrome, Type 4a (BSND)
  • Bernard-Soulier Syndrome, Type A2 (GP1BA)
  • Bernard-Soulier Syndrome, Type B (GP1BB)
  • Bernard-Soulier Syndrome, Type C (GP9)
  • Beta-Hemoglobinopathies (HBB)
  • Beta-Ketothiolase Deficiency (ACAT1)
  • Beta-ureidopropionase deficiency (UPB1)
  • Bilateral Frontoparietal Polymicrogyria (ADGRG1)
  • Biotinidase Deficiency (BTD)
  • Bloom Syndrome (BLM)
  • Canavan Disease (ASPA)
  • Carbamoyl Phosphate Synthetase I Deficiency (CPS1)
  • Carnitine Deficiency (SLC22A5)
  • Carnitine Palmitoyltransferase IA Deficiency (CPT1A)
  • Carnitine Palmitoyltransferase II Deficiency (CPT2)
  • Carnitine-acylcarnitine translocase deficiency (SLC25A20)
  • Carpenter Syndrome (RAB23)
  • Cartilage-Hair Hypoplasia (RMRP)
  • Catecholaminergic polymorphic ventricular tachycardia (CASQ2)
  • Cerebrotendinous Xanthomatosis (CYP27A1)
  • Ceroid Lipofuscinosis, Neuronal, 1 (PPT1)
  • Ceroid Lipofuscinosis, Neuronal, 10 (CLN10 Disease) (CTSD)
  • Ceroid Lipofuscinosis, Neuronal, 2 (TPP1)
  • Ceroid Lipofuscinosis, Neuronal, 3 (CLN3)
  • Ceroid Lipofuscinosis, Neuronal, 5 (CLN5)
  • Ceroid Lipofuscinosis, Neuronal, 6 (CLN6)
  • Ceroid Lipofuscinosis, Neuronal, 7 (MFSD8)
  • Ceroid Lipofuscinosis, Neuronal, 8 (Northern Epilepsy) (CLN8)
  • Charcot-Marie-Tooth Disease type 4D (NDRG1)
  • Charcot-Marie-Tooth Disease with Deafness, X-Linked (GJB1)
  • Chediak-Higashi syndrome (LYST)
  • Choreo-acanthocytosis (VPS13A)
  • Choroideremia, X-Linked (CHM)
  • Chronic Granulomatous Disease, CYBA-Related (CYBA)
  • Chronic Granulomatous Disease, X-Linked (CYBB)
  • Ciliary Dyskinesia, Primary 1 (DNAI1)
  • Ciliary Dyskinesia, Primary 3 (DNAH5)
  • Ciliary Dyskinesia, Primary 9 (DNAI2)
  • Ciliary Dyskinesia, Primary, 16 (DNAL1)
  • Ciliopathies, RPGRIP1L-Related (RPGRIP1L)
  • Cystic Fibrosis (CFTR)
  • Cystinosis (CTNS)
  • Cystinuria, Type A (SLC3A1)
  • Cystinuria, Type B (SLC7A9)
  • Cytochrome P450 oxidoreductase deficiency (POR)
  • Cytochrome-c oxidase deficiency (PET100)
  • Citrullinemia, Type 1 (ASS1)
  • Citrullinemia, Type II (SLC25A13)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • 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)
  • Congenital Adrenal Hyperplasia, 11-beta-hydroxylase-deficient (CYP11B1)
  • Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency (CYP17A1)
  • Congenital Adrenal Hyperplasia, 21-hydroxylase-deficient (CYP21A2)
  • Congenital Adrenal Hypoplasia, X-linked (NR0B1)
  • Congenital Amegakaryocytic Thrombocytopenia (MPL)
  • Congenital Chloride Diarrhea (SLC26A3)
  • Congenital Disorder of Glycosylation, Type 1A, PMM2-Related (PMM2)
  • Congenital Disorder of Glycosylation, Type 1B (MPI)
  • Congenital Disorder of Glycosylation, Type 1C (ALG6)
  • Congenital Finnish Nephrosis (NPHS1)
  • Congenital Hyperinsulinism, KCNJ11-Related (KCNJ11)
  • Congenital hypothyroidism TPO Congenital hypothyroidism (TSHB)
  • Congenital Insensitivity to Pain with Anhidrosis (CIPA) (NTRK1)
  • Congenital Myasthenic Syndrome, CHRNE-Related (CHRNE)
  • Congenital Myasthenic Syndrome, DOK7-Related (DOK7)
  • 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)
  • Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3) (OPA3)
  • Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked) (SLC6A8)
  • Crigler-Najjar Syndrome (UGT1A1)
  • D-Bifunctional Protein Deficiency (HSD17B4)
  • Deafness, autosomal dominant 36, autosomal recessive 7 (TMC1)
  • Deafness, autosomal recessive 16 (STRC)
  • Deafness, Autosomal Recessive 77 (LOXHD1)
  • Deafness, autosomal recessive, 3 (MYO15A)
  • Desbuquois dysplasia 1 (CANT1)
  • Dihydrolipoamide Dehydrogenase Deficiency (DLD)
  • Dihydropyrimidine Dehydrogenase Deficiency (DPYD)
  • Dysautonomia, familial (IKBKAP or ELP1) (IKBKAP)
  • Dyskeratosis Congenita, RTEL1-Related (RTEL1)
  • Dyskeratosis congenita, X-Linked (DKC1)
  • Dystrophic Epidermolysis Bullosa, COL7A1-Related (COL7A1)
  • Dopa-responsive dystonia (GCH1)
  • Duchenne/Becker Muscular Dystrophy (DMD)
  • Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2)
  • Ellis-van Creveld Syndrome, EVC2-related (EVC2)
  • Ellis-van Creveld Syndrome, EVC-Related (EVC)
  • Emery-Dreifuss Muscular Dystrophy 1, X-Linked (EMD)
  • Enhanced S-Cone Syndrome (NR2E3)
  • Erythrokeratodermia variabilis et progressiva (GJB3)
  • Escobar Syndrome (CHRNG)
  • Ethylmalonic Encephalopathy (ETHE1)
  • Fabry Disease (GLA)
  • Factor XI deficiency (F11)
  • Familial dilated cardiomyopathy (TTN)
  • Familial Hypercholesterolemia, LDLRAP1-Related (LDLRAP1)
  • Familial Hypercholesterolemia, LDLR-Related (LDLR)
  • Familial Hyperinsulinism, ABCC8-Related (ABCC8)
  • Familial Mediterranean Fever (MEFV)
  • Familial Nephrogenic Diabetes Insipidus, AQP2-Related (AQP2)
  • Fanconi Anemia, Group A (FANCA)
  • Fanconi Anemia, Group C (FANCC)
  • Fanconi Anemia, Group G (FANCG)
  • Fanconi anemia, Group J (BRIP1)
  • Fibrochondrogenesis type 2 (COL11A2)
  • Fragile X  (Detected by fragment analysis for the FMR1 CGG repeat expansion mutation)
  • Fumarase Deficiency (FH)
  • Galactokinase Deficiency (Galactosemia, Type II) (GALK1)
  • Galactose epimerase deficiency (GALE)
  • Galactosemia (GALT)
  • Gaucher Disease (GBA)
  • Geroderma osteodysplastica (GORAB)
  • Gitelman Syndrome (SLC12A3)
  • Glanzmann thrombasthenia (ITGB3)
  • 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 (Pompe Disease) (GAA)
  • Glycogen Storage Disease, Type III (Cori/Forbes) (AGL)
  • Glycogen Storage Disease, Type IV (GBE1)
  • Glycogen Storage Disease, Type V (McArdle Disease) (PYGM)
  • Glycogen Storage Disease, Type VII (PFKM)
  • Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
  • Glutaric Acidemia, Type 1 (GCDH)
  • Glutaric Acidemia, Type 2A (ETFA)
  • Glutaric Acidemia, Type 2B (ETFB)
  • Glutaric Acidemia, Type 2C (ETFDH)
  • GM3 synthase deficiency (ST3GAL5)
  • GRACILE Syndrome (BCS1L)
  • Grebe syndrome (GDF5)
  • Guanidinoacetate Methyltransferase Deficiency (GAMT)
  • Harlequin ichthyosis (ABCA12)
  • Heme Oxygenase-1 Deficiency (HMOX1)
  • Hemochromatosis, Type 1 (HFE)
  • Hemochromatosis, Type 2A (HFE2)
  • Hemochromatosis, Type 3, TFR2-Related (TFR2)
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related (MPV17)
  • Hereditary Fructose Intolerance (ALDOB)
  • Hereditary Spastic Paraparesis, Type 49 (TECPR2)
  • Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related (LAMA3)
  • Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related (LAMB3)
  • Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related (LAMC2)
  • Hermansky-Pudlak Syndrome 1 (HPS1)
  • Hermansky-Pudlak Syndrome 3 (HPS3)
  • Hermansky-Pudlak syndrome 4 (HPS4)
  • Hydatidiform Mole, Recurrent (NLRP7)
  • Hydrolethalus Syndrome (HYLS1)
  • Hypermethioninemia (MAT1A)
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome (SLC25A15)
  • Hyperoxaluria, Primary, Type 1 (AGXT)
  • Hyperphosphatemic familial tumoral calcinosis (GALNT3)
  • Hypohidrotic Ectodermal Dysplasia (EDAR)
  • Hypohidrotic Ectodermal Dysplasia, X-Linked (EDA)
  • Hypophosphatasia, ALPL-Related (ALPL)
  • Hypothyroidism, congenital, nongoitrous, 1 (TSHR)
  • Holocarboxylase Synthetase Deficiency (HLCS)
  • Homocystinuria due to Deficiency of MTHFR (MTHFR)
  • Homocystinuria, CBS-Related (CBS)
  • Homocystinuria, Type cblE (MTRR)
  • Inclusion Body Myopathy 2 (GNE)
  • Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Isolated growth hormone deficiency, Type IA/II (GH1)
  • Isolated growth hormone deficiency, Type IB (GHRHR)
  • Isolated growth hormone deficiency, Type III, X-linked (BTK)
  • Isovaleric Acidemia (IVD)
  • Joubert Syndrome 2 / Meckel Syndrome 2 (TMEM216)
  • Juvenile Nephronophthisis (NPHP1)
  • Juvenile Retinoschisis, X-Linked (RS1)
  • Krabbe Disease (GALC)
  • LAMA2-related Muscular Dystrophy (LAMA2)
  • Lamellar Ichthyosis, Type 1 (TGM1)
  • Leber congenital amaurosis 1 (GUCY2D)
  • Leber Congenital Amaurosis 2 (RPE65)
  • Leber congenital amaurosis 8 (CRB1)
  • Leber Congenital Amaurosis, Type CEP290 (CEP290)
  • Leber Congenital Amaurosis, Type LCA5 (LCA5)
  • Leber Congenital Amaurosis, Type RDH12 (RDH12)
  • Leydig cell hypoplasia (LHCGR)
  • Leigh Syndrome (SURF1)
  • Leigh Syndrome, French-Canadian Type (LRPPRC)
  • Lethal Congenital Contracture Syndrome 1 (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 2F (SGCD)
  • Limb-Girdle Muscular Dystrophy, Type 2I (FKRP)
  • Lipoid Congenital Adrenal Hyperplasia (STAR)
  • Lipoprotein Lipase Deficiency (LPL)
  • Lysinuric Protein Intolerance (SLC7A7)
  • Lysosomal Acid Lipase Deficiency (LIPA)
  • Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA)
  • Lowe syndrome, X-Linked (OCRL)
  • Malonyl-CoA decarboxylase deficiency (MLYCD)
  • Maple Syrup Urine Disease, Type 1A (BCKDHA)
  • Maple Syrup Urine Disease, Type 1B (BCKDHB)
  • Maple Syrup Urine Disease, Type 2 (DBT)
  • Meckel-Gruber Syndrome, Type 1 (MKS1)
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)
  • Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1)
  • Megaloblastic Anemia Syndrome (SLC19A2)
  • Menkes Syndrome, X-Linked (ATP7A)
  • Mental retardation, autosomal recessive 3 (CC2D1A)
  • Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) (AP1S1)
  • Metachromatic Leukodystrophy, ARSA-Related (ARSA)
  • Metachromatic Leukodystrophy, PSAP-Related (PSAP)
  • Methylmalonic Aciduria and Homocystinuria, Type cblC (MMACHC)
  • Methylmalonic Aciduria and Homocystinuria, Type cblD (MMADHC)
  • Methylmalonic Aciduria, MMAA-Related (MMAA)
  • Methylmalonic Aciduria, MMAB-Related (MMAB)
  • Methylmalonic Aciduria, Type mut(0) (MUT)
  • Myasthenic syndrome, congenital, 22 (PREPL)
  • Microcephaly, postnatal progressive, with seizures and brain atrophy (MED17)
  • Microphthalmia/Anophthalmia, VSX2-Related (VSX2)
  • Myoneurogastrointestinal Encephalopathy (MNGIE) (TYMP)
  • Myotubular Myopathy, X-Linked (MTM1)
  • MIRAGE syndrome (SAMD9)
  • Mitochondrial complex I deficiency (NDUFS4)
  • 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 5 (encephalomyopathic with or without methylmalonic aciduria) (SUCLA2)
  • Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1) (PUS1)
  • Molybdenum cofactor deficiency (MOCS1)
  • Mucolipidosis II/IIIA (GNPTAB)
  • Mucolipidosis III gamma (GNPTG)
  • Mucolipidosis, Type IV (MCOLN1)
  • Mucopolysaccharidosis, Type I (Hurler Syndrome) (IDUA)
  • Mucopolysaccharidosis, Type II (Hunter Syndrome) (IDS)
  • Mucopolysaccharidosis, Type IIIA (Sanfilippo A) (SGSH)
  • Mucopolysaccharidosis, Type IIIB (Sanfilippo B) (NAGLU)
  • Mucopolysaccharidosis, Type IIIC (Sanfilippo C) (HGSNAT)
  • Mucopolysaccharidosis, Type IIID (Sanfilippo D) (GNS)
  • Mucopolysaccharidosis, Type IVA (GALNS)
  • Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis (GLB1)
  • Mucopolysaccharidosis, Type VI (Maroteaux-Lamy) (ARSB)
  • Mucopolysaccharidosis, Type VII (GUSB)
  • Mulibrey nanism syndrome (TRIM37)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
  • Multiple Sulfatase Deficiency (SUMF1)
  • Muscle-Eye-Brain Disease, POMGNT1-Related (POMGNT1)
  • N-acetylglutamate Synthase Deficiency (NAGS)
  • Nemaline Myopathy, NEB-Related (NEB)
  • Niemann-Pick Disease, Type C1/D (NPC1)
  • Niemann-Pick Disease, Type C2 (NPC2)
  • Niemann-Pick Disease, Types A/B (SMPD1)
  • Nijmegen Breakage Syndrome (NBN)
  • Non-Syndromic Hearing Loss (a.k.a. Connexin 26) (GJB2)
  • Non-Syndromic Hearing Loss (a.k.a. Connexin 30) (GJB6)
  • Oculocutaneous Albinism, Type 1 (TYR)
  • Oculocutaneous albinism, Type 3 (TYRP1)
  • Oculocutaneous albinism, Type 4 (SLC45A2)
  • Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome (WNT10A)
  • Omenn Syndrome, RAG1-Related (RAG1)
  • Omenn Syndrome, RAG2-Related (RAG2)
  • Ornithine Aminotransferase Deficiency (OAT)
  • Ornithine Transcarbamylase Deficiency (OTC)
  • Osteopetrosis, Infantile Malignant, TCIRG1-Related (TCIRG1)
  • Pantothenate Kinase-Associated Neurodegeneration (PANK2)
  • Papillon-Lefevre Syndrome (CTSC)
  • Pendred Syndrome (SLC26A4)
  • Peroxisome Biogenesis Disorder 1A (Zellweger) (PEX1)
  • Peroxisome Biogenesis Disorder 3A (Zellweger) (PEX12)
  • Peroxisome Biogenesis Disorder 4A (Zellweger) (PEX6)
  • Peroxisome Biogenesis Disorder 5A (Zellweger) (PEX2)
  • Peroxisome Biogenesis Disorder 6A (Zellweger) (PEX10)
  • Persistent Müllerian duct syndrome type 1 (AMH)
  • Persistent Müllerian duct syndrome type 2 (AMHR2)
  • Phenylketonuria (PAH)
  • Phosphoglycerate Dehydrogenase Deficiency (PHGDH)
  • Pycnodysostosis (CTSK)
  • Pyridoxal 5′-phosphate-dependent epilepsy (PNPO)
  • Pyridoxine-dependent epilepsy (ALDH7A1)
  • Pyruvate Carboxylase Deficiency (PC)
  • Pyruvate Dehydrogenase Deficiency, PDHB-Related (PDHB)
  • Pyruvate Dehydrogenase Deficiency, X-Linked (PDHA1)
  • POLG-Related Disorders (POLG)
  • Polycystic Kidney Disease, Autosomal Recessive (PKHD1)
  • Pontocerebellar hypoplasia (TSEN54)
  • Pontocerebellar Hypoplasia, Type 1 and 6, RARS2-Related (RARS2)
  • Pontocerebellar Hypoplasia, Type 1A (VRK1)
  • Pontocerebellar Hypoplasia, Type 1B (EXOSC3)
  • Pontocerebellar Hypoplasia, Type 2D (SEPSECS)
  • Pontocerebellar Hypoplasia, Type 2E (VPS53)
  • Primary Congenital Glaucoma (CYP1B1)
  • Primary Hyperoxaluria, Type 2 (GRHPR)
  • Primary Hyperoxaluria, Type 3 (HOGA1)
  • Progressive Familial Intrahepatic Cholestasis, Type 1 (ATP8B1)
  • Progressive Familial Intrahepatic Cholestasis, Type 2 (ABCB11)
  • Progressive Familial Intrahepatic Cholestasis, Type 3 (ABCB4)
  • Progressive Pseudorheumatoid Dysplasia (WISP3)
  • Prolidase deficiency (PEPD)
  • Propionic Acidemia, PCCA-Related (PCCA)
  • Propionic Acidemia, PCCB-Related (PCCB)
  • Prothrombin deficiency (F2)
  • Pseudocholinesterase Deficiency (BCHE)
  • Pseudoxanthoma elasticum (ABCC6)
  • Renal Tubular Acidosis and Deafness, ATP6V1B1-Related (ATP6V1B1)
  • Retinal Dystrophies, RLBP1-Associated (RLBP1)
  • Retinitis Pigmentosa 25 (EYS)
  • Retinitis Pigmentosa 26 (CERKL)
  • Retinitis Pigmentosa 28 (FAM161A)
  • Retinitis Pigmentosa 59 (DHDDS)
  • RETT Syndrome (MECP2)
  • Rhizomelic Chondrodysplasia Punctata, Type 1 (PEX7)
  • Rhizomelic Chondrodysplasia Punctata, Type 3 (AGPS)
  • Roberts Syndrome (ESCO2)
  • Salla Disease (SLC17A5)
  • Sandhoff Disease (HEXB)
  • Schimke Immuno-osseous Dysplasia (SMARCAL1)
  • Segawa Syndrome, TH-Related (TH)
  • Severe Combined Immunodeficiency, ADA-Related (ADA)
  • Severe Combined Immunodeficiency, Type Athabaskan (DCLRE1C)
  • Severe Combined Immunodeficiency, X-Linked (IL2RG)
  • Short Chain Acyl-CoA Dehydrogenase Deficiency (ACADS)
  • Short/branched chain acyl-CoA dehydrogenase (ACADSB)
  • Shwachman-Diamond syndrome (SBDS)
  • Sialidosis (NEU1)
  • Sjogren-Larsson Syndrome (ALDH3A2)
  • Smith-Lemli-Opitz Syndrome (DHCR7)
  • Spastic Paraplegia Type 15 (ZFYVE26)
  • Spinal Muscular Atrophy (SMN1)
  • Spinal Muscular Atrophy (Detected by MLPA for the Deletion/Duplication of SMN1 and SMN2 exons 7 and exons 8)
  • Spondylothoracic Dysostosis, MESP2-Related (MESP2)
  • Stargardt Disease, Type 1 (ABCA4)
  • Steroid-Resistant Nephrotic Syndrome (NPHS2)
  • Stuve-Wiedemann Syndrome (LIFR)
  • Tay-Sachs Disease (HEXA)
  • Tyrosinemia, Type I (FAH)
  • Tyrosinemia, Type II (TAT)
  • Tyrosinemia, Type III (HPD)
  • Tricho-Hepato-Enteric Syndrome (TTC37)
  • Trifunctional protein deficiency (HADHB)
  • Usher Syndrome, Type 1B (MYO7A)
  • Usher Syndrome, Type 1C (USH1C)
  • Usher Syndrome, Type 1D (CDH23)
  • Usher Syndrome, Type 1F (PCDH15)
  • Usher Syndrome, Type 2A (USH2A)
  • Usher Syndrome, Type 3 (CLRN1)
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)
  • Vitamin D-dependent rickets type 1A (CYP27B1)
  • Von Willebrand disease (VWF)
  • Walker-Warburg Syndrome, FKTN-Related (FKTN)
  • Werner Syndrome (WRN)
  • Wilson Disease (ATP7B)
  • Wiskott-Aldrich syndrome, X-Linked (WAS)
  • Wolcott-Rallison Syndrome (EIF2AK3)
  • Woolly Hair/Hypotrichosis Syndrome (LIPH)
  • Xeroderma pigmentosum Group A (XPA)
  • Xeroderma Pigmentosum Group B (ERCC3)
  • Xeroderma Pigmentosum Group C (XPC)
  • Xeroderma Pigmentosum Group D (ERCC2)
  • Xeroderma Pigmentosum Group E (DDB2)
  • Xeroderma Pigmentosum Group F (ERCC4)
  • Xeroderma pigmentosum Group G (ERCC5)
  • Xeroderma pigmentosum Variant (POLH)