11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia
21-hydroxylase Deficient Congenital Adrenal Hyperplasia
6-pyruvoyl-tetrahydropterin Synthase Deficiency
ABCC8-related Hyperinsulinism
AMT-related Glycine Encephalopathy
ARSACS
ATP7A-related Disorders
Achromatopsia
Adenosine Deaminase Deficiency
Alkaptonuria
Alpha Thalassemia
Alpha-1 Antitrypsin Deficiency
Alpha-mannosidosis
Alstrom Syndrome
Andermann Syndrome
Argininemia
Argininosuccinic Aciduria
Aspartylglycosaminuria
Ataxia With Vitamin E Deficiency
Ataxia-telangiectasia
Autosomal Recessive Osteopetrosis Type 1
Autosomal Recessive Polycystic Kidney Disease
Bardet-Biedl Syndrome, BBS1-related
Bardet-Biedl Syndrome, BBS10-related
Bardet-Biedl Syndrome, BBS12-related
Bardet-Biedl Syndrome, BBS2-related
Beta-Thalassemia
Biotinidase Deficiency
Bloom Syndrome
CLN3-related Neuronal Ceroid Lipofuscinosis
CLN5-related Neuronal Ceroid Lipofuscinosis
CLN6-related Neuronal Ceroid Lipofuscinosis
CLN8-related Neuronal Ceroid Lipofuscinosis
COL4A3-related Alport Syndrome
COL4A4-related Alport Syndrome
Calpainopathy
Canavan Disease
Carbamoylphosphate Synthetase I Deficiency
Carnitine Palmitoyltransferase 1A Deficiency
Carnitine Palmitoyltransferase II Deficiency
Cartilage-hair Hypoplasia
Cerebrotendinous Xanthomatosis
Choroideremia
Citrullinemia Type 1
Cobalamin C Disease
Cohen Syndrome
Congenital Disorder Of Glycosylation Type 1a
Congenital Disorder Of Glycosylation Type 1b
Congenital Disorder Of Glycosylation Type Ic
Congenital Finnish Nephrosis
Costeff Optic Atrophy Syndrome
Cystic Fibrosis
Cystinosis
D-bifunctional Protein Deficiency
Delta-sarcoglycanopathy
Dihydrolipoamide Dehydrogenase Deficiency
Dihydropyrimidne Dehyrdogenase Deficiency
Dysferlinopathy
Dystrophinopathy (including Duchenne/Becker Muscular Dystrophy)
ERCC6-related Disorders
ERCC8-related Disorders
EVC-related Ellis-van Creveld Syndrome
EVC2-related Ellis-van Creveld Syndrome
Ethylmalonic Encephalopathy
FKRP-related Disorders
Fabry Disease
Factor V Leiden Thrombophilia
Factor XI Deficiency
Familial Dysautonomia
Familial Mediterranean Fever
Fanconi Anemia Complementation Group A
Fanconi Anemia Type C
Fragile X Syndrome
GJB2-related DFNB1 Nonsyndromic Hearing Loss And Deafness
GLB1-related Disorders
GLDC-related Glycine Encephalopathy
GNPTAB-related Disorders
GRACILE Syndrome
Galactokinase Deficiency
Galactosemia
Gamma-sarcoglycanopathy
Gaucher Disease
Glucose-6-phosphate Dehydrogenase Deficiency
Glutaric Acidemia Type 1
Glutathione Synthetase Deficiency
Glycine Encephalopathy
Glycogen Storage Disease Type II
Glycogen Storage Disease Type III
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type V
HFE-Associated Hereditary Hemochromatosis
HMG-CoA Lyase Deficiency
Hb Beta Chain-related Hemoglobinopathy (including Beta Thalassemia And Sickle Cell Disease)
Hereditary Fructose Intolerance
Hereditary Thymine-uraciluria
Herlitz Junctional Epidermolysis Bullosa, LAMA3-related
Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
Hexosaminidase A Deficiency
Hexosaminidase A Deficiency (including Tay-Sachs Disease)
Holocarboxylase Synthetase Deficiency
Holocarboxylase Synthetase Deficiency
Homocystinuria Caused By Cystathionine Beta-synthase Deficiency
Hurler Syndrome
Hydrolethalus Syndrome
Hyperoxaluria Type 1
Hyperoxaluria Type 2
Hypophosphatasia, Autosomal Recessive
Inclusion Body Myopathy 2
Isovaleric Acidemia
Joubert Syndrome 2
Junctional Epidermolysis Bullosa, LAMA3-related
Junctional Epidermolysis Bullosa, LAMB3-related
Junctional Epidermolysis Bullosa, LAMC2-related
KCNJ11-related Familial Hyperinsulinism
Karyotyping
Kel*K
Kel*k
Krabbe Disease
LAMA2-related Muscular Dystrophy
LRRC6
Leigh Syndrome
Leigh Syndrome, French-Canadian Type
Limb-girdle Muscular Dystrophy Type 2D
Limb-girdle Muscular Dystrophy Type 2E
Lipoamide Dehydrogenase Deficiency
Lipoid Congenital Adrenal Hyperplasia
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Lysosomal Acid Lipase Deficiency
MKS1-related Disorders
MTHFR Deficiency
MYO7A-related Disorders
Maple Syrup Urine Disease Type 1A
Maple Syrup Urine Disease Type 1B
Maple Syrup Urine Disease Type 3
Maple Syrup Urine Disease Type II
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Megalencephalic Leukoencephalopathy With Subcortical Cysts
Metachromatic Leukodystrophy
Methylmalonic Acidemia MMAA-related
Methylmalonic Acidemia MMAB-related
Methylmalonic Acidemia MUT-related
Methylmalonic Acidemia, CblA Type
Methylmalonic Acidemia, CblB Type
Methylmalonic Aciduria And Homocystinuria Type CbIC
Mucolipidosis III Gamma
Mucolipidosis IV
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIC
Muscle-eye-brain Disease
NEB-related Nemaline Myopathy
Nephrotic Syndrome, NPHS1-Related
Nephrotic Syndrome, NPHS2-Related
Niemann-Pick Disease Type A
Niemann-Pick Disease Type B
Niemann-Pick Disease Type C
Niemann-Pick Disease Type C2
Niemann-Pick Disease, SMPD1-associated
Nijmegen Breakage Syndrome
Non-Ketonic Hyperglycinemia, GLDC-Related
Northern Epilepsy
Ornithine Transcarbamylase Deficiency
PCCA-related Propionic Acidemia
PCCB-related Propionic Acidemia
PEX1-related Zellweger Syndrome Spectrum
PPT1-related Neuronal Ceroid Lipofuscinosis
PROP1-related Combined Pituitary Hormone Deficiency
Pendred Syndrome
Peroxisome Biogenesis Disorder Type 3
Peroxisome Biogenesis Disorder Type 4
Peroxisome Biogenesis Disorder Type 5
Peroxisome Biogenesis Disorder Type 6
Phenylalanine Hydroxylase Deficiency
Polyglandular Autoimmune Syndrome Type 1
Pompe Disease
Primary Carnitine Deficiency
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3
Propionic Acidemia, PCCA-Related
Propionic Acidemia, PCCB-Related
Prothrombin Thrombophilia
Pseudocholinesterase Deficiency
Pycnodysostosis
Pyruvate Carboxylase Deficiency
RTEL1-related Disorders
Rhizomelic Chondrodysplasia Punctata Type 1
Salla Disease
Sandhoff Disease
Sandhoff Disease
Segawa Syndrome
Short Chain Acyl-CoA Dehydrogenase Deficiency
Sickle Cell Disease
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spastic Paraplegia Type 15
Amyotrophie musculaire spinale
Spondylothoracic Dysostosis
Steroid-resistant Nephrotic Syndrome
Sulfate Transporter-related Osteochondrodysplasia
TGM1-related Autosomal Recessive Congenital Ichthyosis
TPP1-related Neuronal Ceroid Lipofuscinosis
Tay-Sachs Disease (Counsyl)
Tay-Sachs Disease (LabCorp)
Tyrosinemia Type 1
Tyrosinemia Type II
USH1C-related Disorders
USH2A-related Disorders
USH2A-related Disorders
Usher Syndrome Type 1F
Usher Syndrome Type 3
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Walker-Warburg Syndrome
Wilson Disease
X-linked Adrenoleukodystrophy
X-linked Alport Syndrome
X-linked Congenital Adrenal Hypoplasia
X-linked Juvenile Retinoschisis
X-linked Juvenile Retinoschisis
X-linked Myotubular Myopathy
X-linked Severe Combined Immunodeficiency
Xeroderma Pigmentosum Group A
Xeroderma Pigmentosum Group C