Cystic Fibrosis (CFTR), Spinal Muscular Atrophy (SMN1, SMN2), Alpha Thalassemia (HBA1, HBA2), Beta Thalassemia, (HBB),Fragile X Syndrome (FMR1), Bloom Syndrome (BLM), Canavan Disease (ASPA), Duchenne Muscular Dystrophy (DMD), Familial Dysautonomia, (IKBKAP), Fanconi Anemia, Type C (FANCC), , Galactosemia (GALT), Gaucher Disease (GBA), Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM), Mucolipidosis, Type IV (MCOLN1), Niemann-Pick Disease, Types A/B (SMPD1), Non-Syndromic Hearing Loss GJB2-Related and GJB6-Related (GJB2, GJB6), Phenylketonurea (PAH), Sickle-Cell Disease (HBB), Smith-Lemli-Opitz Syndrome (DHCR7), Tay-Sachs Disease (HEXA)

3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency (HMGCL), 3-Methylcrotonyl-CoA Carboxylase Deficiency 1 (MCCC1), 3-Methylcrotonyl-CoA Carboxylase Deficiency 2 (MCCC2), 3-Methylglutaconic Aciduria, Type 3, Costeff Syndrome (OPA3), 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH), 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency (PTS), Abetalipoproteinemia (MTTP), Achondrogenesis, Type 1B (SLC26A2), Achromatopsia (CNGB3-related) (CNGB3), Acute Infantile Liver Failure (TRMU-related) (TRMU), Acyl-CoA Oxidase I Deficiency (ACOX1), Adrenoleukodystrophy (ABCD1), Aicardi-Goutières Syndrome (SAMHD1), Alpha Thalassemia (HBA1, HBA2), Alport Syndrome (COL4A3-related) (COL4A3), Alport Syndrome (COL4A5), Alstrom Syndrome (ALMS1), Andermann Syndrome (SLC12A6), Argininosuccinate Lyase Deficiency (ASL), Aromatase Deficiency (CYP19A1), Arthrogryposis Mental Retardation Seizures (SLC35A3), Asparagine Synthetase Deficiency (ASNS), Aspartylglycosaminuria (AGA), Ataxia with Vitamin E Deficiency (TTPA), Ataxia-Telangiectasia (ATM), Autoimmune Polyglandular Syndrome, Type 1 (AIRE), Autosomal Recessive Polycystic Kidney Disease (PKHD1), Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay (SACS), Bardet-Biedl Syndrome (BBS1-related) (BBS1), Bardet Biedl syndrome (BBS12-related) (BBS12), Bare Lymphocyte Syndrome (CIITA-related) (CIITA), Bartter Syndrome (BSND-related) (BSND), Batten Disease (CLN3-related) (CLN3), Beta Thalassemia (HBB), Biotinidase Deficiency (BTD), Bloom Syndrome (BLM), Canavan Disease (ASPA), Carnitine Palmitoyltransferase IA Deficiency (CPT1A), Carnitine Palmitoyltransferase II Deficiency (CPT2), Carpenter Syndrome (RAB23), Cartilage-Hair Hypoplasia (RMRP), Cerebrotendinous Xanthomatosis (CYP27A1), Choreacanthocytosis, VPS13A Choroideremia (CHM), Chronic Granulomatous Disease (CYBB), Citrin Deficiency (SLC25A13), Citrullinemia, Type 1 (ASS1), 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 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 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), CRB1-related Retinal Dystrophies (CRB1), Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1) (SLC6A8), Crigler Najjar syndrome, Type I (UGT1A1), Cystic Fibrosis CFTR, Cystinosis (CTNS), D-Bifunctional Protein Deficiency (HSD17B4), Deafness (LOXHD1), Duchenne Muscular Dystrophy (DMD), Dystrophic Epidermolysis Bullosa (COL7A1-related) (COL7A1), Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2), Emery-Dreifuss Muscular Dystrophy 1 (EMD), Enhanced S-Cone Syndrome (NR2E3), Ethylmalonic Encephalopathy (ETHE1), Fabry Disease (GLA), Factor IX Deficiency (F9), Factor V Leiden Thrombophilia (F5), Factor XI Deficiency (F11), Familial Dysautonomia (IKBKAP), Familial Hypercholesterolemia (LDLR-related) (LDLR), Familial Mediterranean Fever (MEFV), Familial Nephrogenic Diabetes Insipidus (AQP2- related) (AQP2), Fanconi Anemia, Type G (FANCG), Fanconi Anemia, Type C (FANCC), Fragile X Syndrome (FMR1), Galactokinase Deficiency (Galactosemia, Type II) (GALK1), Galactosemia (GALT), Gaucher Disease (GBA), Glutaric Acidemia, Type 1 (GCDH), Glutaric Acidemia, Type 2A (ETFA), Glycine Encephalopathy (GLDC-related) (GLDC), Glycine Encephalopathy (AMT-related) (AMT), Glycogen Storage Disease, Type 1A (G6PC), Glycogen Storage Disease, Type 1B (SLC37A4), Glycogen Storage Disease, Type 2 (Pompe Disease) (GAA), Glycogen Storage Disease, Type 3 (AGL), Glycogen Storage Disease, Type 4 (GBE1), Glycogen Storage Disease, Type 5 (McArdle Disease) (PYGM), Glycogen Storage Disease, Type 7 (PFKM), GRACILE Syndrome (BCS1L), Hemochromatosis, Type 2A (HFE2), Hemochromatosis, Type 3 (TFR2-related) (TFR2), Hereditary Fructose Intolerance (ALDOB), Hermansky-Pudlak Syndrome (HPS1-related) (HPS1), Hermansky-Pudlak Syndrome (HPS3-related) (HPS3), Holocarboxylase Synthetase Deficiency (HLCS), Homocystinuria (CBS-related) (CBS), Homocystinuria, Type cblE (MTRR), Hydrolethalus Syndrome (HYLS1), Hypohidrotic Ectodermal Dysplasia (EDA), Hypophosphatasia (ALPL-related), (ALPL), Inclusion Body Myopathy Type 2 (GNE), Isovaleric Acidemia (IVD), Joubert Syndrome, Type 2 (TMEM216), Junctional Epidermolysis Bullosa, Herlitz type (LAMC2), Juvenile Retinoschisis (RS1), Krabbe Disease (GALC), Lamellar Ichthyosis, Type 1 (TGM1), Leber Congenital Amaurosis (LCA5-related) (LCA5), Leber Congenital Amaurosis, Type CEP290 (CEP290), Leigh Syndrome, French-Canadian Type (LRPPRC), Leukoencephalopathy with Vanishing White Matter (EIF2B5), Leydig Cell Hypoplasia (Luteinizing Hormone Resistance) (LHCGR), 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), Lipoamide Dehydrogenase Deficiency (Maple Syrup Urine Disease, Type 3) (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 1B (BCKDHB), Meckel-Gruber Syndrome, Type 1 (MKS1), Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM), Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1), Metachromatic Leukodystrophy (ARSA-related) (ARSA), Metachromatic Leukodystrophy (PSAP-related) (PSAP), Methylmalonic Aciduria (MMAA-related) (MMAA), Methylmalonic Aciduria (MMAB-related) (MMAB), Methylmalonic Aciduria and Homocystinuria, Type cblC (MMACHC), Methylmalonic Aciduria i Homocystinuria, Type cblD (MMADHC), Methylmalonic Aciduria, Type mut(0) (MMUT), Microphthalmia/Anophthalmia (VSX2-related) (VSX2), Mitochondrial Complex 1 Deficiency (ACAD9-related) (ACAD9), Mitochondrial Complex 1 Deficiency (NDUFAF5- related) (NDUFAF5), Mitochondrial Complex 1 Deficiency (NDUFS6-related) (NDUFS6), Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1) (PUS1), Mucolipidosis II/III (GNPTAB), Mucolipidosis III Gamma (GNPTG), Mucolipidosis, Type IV (MCOLN1), Mucopolysaccharidosis, Type II (Hunter Syndrome) (IDS), Mucopolysaccharidosis, Type IIIB (Sanfilippo B) (NAGLU), Mucopolysaccharidosis, Type IIIC (Sanfilippo C) (HGSNAT), Mucopolysaccharidosis IIID (Sanfilippo D) (GNS), Mucopolysaccharidosis, Type IX (HYAL1), Multiple Sulfatase Deficiency (SUMF1), Myoneurogastrointestinal Encephalopathy (MNGIE) (TYMP), Myotubular Myopathy (MTM1), N-acetylglutamate Synthase Deficiency (NAGS), Navajo Neurohepatopathy (MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome) (MPV17), Neurological Ceroid Lipofuscinosis, TPP1-related (TPP1), Neuronal Ceroid Lipofuscinosis (MFSD8-related) (MFSD8), Neuronal Ceroid Lipofuscinosis (CLN5-related) (CLN5), Neuronal Ceroid Lipofuscinosis (CLN6-related) (CLN6), Neuronal Ceroid Lipofuscinosis (CLN8-related) (CLN8), Neuronal Ceroid Lipofuscinosis (PPT1-related) (PPT1), Niemann-Pick Disease, Types A/B (SMPD1), Niemann-Pick Disease, Type C1/D (NPC1), Niemann-Pick Disease, Type C2 (NPC2), Nijmegen Breakage Syndrome (NBN), Non-Syndromic Hearing Loss (GJB2-related, GJB6-related) (GJB2, GJB6), Odonto-Onycho-Dermal Dysplasia/Schopf-Schulz- Passarge Syndrome (WNT10A), Omenn Syndrome, RAG2-related (RAG2), Ornithine Aminotransferase Deficiency (OAT), Ornithine Transcarbamylase Deficiency (OTC), Ornithine Translocase Deficiency (HyperornithinemiaHyperammonemia-Homocitrullinuria) (SLC25A15), Pendred Syndrome (SLC26A4), Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related) (PEX1), Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related) (PEX2), Phenylketonurea (PAH), Pituitary Hormone Deficiency, Combined 3 (LHX3), Pontocerebellar Hypoplasia, RARS2-related (RARS2), Pontocerebellar Hypoplasia, Type 1A (VRK1), Pontocerebellar Hypoplasia, Type 2D (SEPSECS), Pontocerebellar Hypoplasia, Type 2E (VPS53), 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), Pycnodysostosis (CTSK), Pyruvate Dehydrogenase Deficiency (PDHB-related) (PDHB), Pyruvate Dehydrogenase Deficiency (PDHA1), Renal Tubular Acidosis and Deafness (ATP6V1B1- related) (ATP6V1B), Retinal Dystrophy (RLBP1-related) (Bothnia Retinal Dystrophy) (RLBP1), Retinitis Pigmentosa 59 (DHDDS-related) (DHDDS), Retinitis Pigmentosa 25 (EYS-related) (EYS), Retinitis Pigmentosa 26 (CERKL), Retinitis Pigmentosa 28 (FAM161A), Retinitis Pigmentosa (RPGR), 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-related) (TH), Severe Combined Immunodeficiency, Type Athabaskan (DCLRE1C), Severe Combined Immunodeficiency (IL2RG), Sickle-Cell Disease (HBB), Sjögren-Larsson Syndrome (ALDH3A2), Smith-Lemli-Opitz Syndrome (DHCR7), Spinal Muscular Atrophy (SMN1, SMN2), Steroid-Resistant Nephrotic Syndrome (NPHS2), Stuve-Wiedemann Syndrome (LIFR), Tay-Sachs Disease (HEXA), Tyrosinemia, Type 1 (FAH), Usher Syndrome, Type 1C (USH1C), Usher Syndrome, Type 1F (PCDH15), Usher Syndrome, Type 2A (USH2A), Usher Syndrome, Type 3 (CLRN1), Wilson Disease (ATP7B), Wolman Disease (LIPA), Zellweger Spectrum Disorders (PEX6-related) (PEX6), Zellweger Spectrum Disorders (PEX10-related) (PEX10)

Cystic Fibrosis (CFTR), Spinal Muscular Atrophy (SMN1, SMN2), Alpha Thalassemia (HBA1, HBA2), Beta Thalassemia, (HBB), Fragile X Syndrome (FMR1) i Duchenne Muscular Dystrophy (DMD)