Conditions Tested

Alpha-1-antitrypsin deficiency Joubert syndrome 2, Meckel syndrome 2
Achromatopsia 3 Krabbe disease
Adrenoleukodystrophy, X-linked LAMA3-related junctional epidermolysis bullosa
Albinism, oculocutaneous, type IA LAMB3-related junctional epidermolysis bullosa
Alkaptonuria LAMC2-related junctional epidermolysis bullosa
Alpha Mannosidosis types I and II Limb-girdle muscular dystrophy Type 2A
Alpha Thalassemia Limb-girdle muscular dystrophy Type 2B
Alpha-methylacetoacetic aciduria (Beta-Ketothiolase deficiency) Limb-girdle muscular dystrophy Type 2C
Alport syndrome Limb-girdle muscular dystrophy Type 2D
Andermann syndrome (Agenesis of the corpus callosum with peripheral neuropathy) Limb-girdle muscular dystrophy Type 2E
Argininosuccinate lyase deficiency Liver failure acute infantile
Arthrogryposis, mental retardation, and seizures Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD deficiency)
Asparagine synthetase deficiency Maple syrup urine disease type 1A
Aspartylglycosaminuria Maple syrup urine disease type 1B
Ataxia with vitamin E deficiency Maple syrup urine disease type 2
Ataxia-telangiectasia syndrome Maple Syrup Urine disease, type 3 (Dihydrolipoamide dehydrogenase deficiency)
Autosomal recessive deafness, 7 and 11  Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD deficiency)
Autosomal recessive Spastic ataxia of Charlevoix-Saguenay type Megalencephalic leukoencephalopathy with subcortical cysts
Bardet-Biedl syndrome: BBS1-Related Megaloblastic anemia syndrome
Bardet-Biedl syndrome: BBS2-Related Metachromatic leukodystrophy
Bardet-Biedl syndrome: BBS10-Related Methylmalonic acidemia and homocystinuria cblC Type
Bernard-Soulier syndrome Type B Methylmalonic acidemia, mut-Type
Bernard-Soulier syndrome Type C Methylmalonic aciduria cblA Type
Beta Thalassemia Methylmalonic aciduria cblB Type
Biotinidase deficiency Microcephaly, postnatal progressive, with seizures and brain atrophy
Bloom syndrome Microphthalmia, isolated, with coloboma 3
Canavan disease Mitochondrial complex I deficiency
Carnitine palmitoyltransferase (CPT) 1A deficiency Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Carnitine palmitoyltransferase II (CPT) deficiency Mucolipidosis II/III alpha/beta (I cell disease)
Cartilage-hair hypoplasia– Anauxetic Dysplasia Spectrum Disorders Mucolipidosis IV (Sialolipidosis)
Cerebrotendinous xanthomatosis Mucopolysaccharidosis type I (Hurler syndrome)
Cholesteryl ester storage disease (Wolman syndrome) Mucopolysaccharidosis II (Hunter syndrome)
Choreoacanthocytosis Mucopolysaccharidosis, type IIIA (Sanfilippo syndrome A)
Choroideremia Mucopolysaccharidosis, type IIIB (Sanfilippo syndrome B)
Chronic granulomatous disease autosomal recessive due to cytochrome b-negative deficiency Mucopolysaccharidosis, type IVA (Morquio syndrome A)
Citrullinemia type I Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
Cohen syndrome Mucopolysaccharidosis type VII (Sly syndrome)
Combined pituitary hormone deficiency-2 Multiple sulfatase deficiency
Congenital adrenal hyperplasia (21 hydroxylase deficiency) Muscle-Eye-Brain Disease, POMGNT1-related
Congenital amegakaryocytic thrombocytopenia Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
Congenital disorder of Glycosylation, type 1a Myopathy, lactic acidosis, and sideroblastic anemia 1
Congenital disorder of Glycosylation type 1b Nemaline myopathy
Congenital Insensitivity to Pain with Anhidrosis Nephrotic syndrome, type 1 (Finnish nephrosis)
Costeff syndrome (3-Methylglutaconic aciduria type 3) Nephrotic syndrome, type 2
Cystic fibrosis Neurodegeneration with brain iron accumulation 1 (Pantothenate kinase-associated neurodegeneration, HARP syndrome)
Cystinosis Neuronal Ceroid Lipofuscinosis, 1
D-bifunctional protein deficiency (Perrault syndrome) Neuronal Ceroid Lipofuscinosis, 2
Dihydropyrimidine dehydrogenase deficiency (5-Fluorouracil toxicity) Neuronal Ceroid Lipofuscinosis, 3
Duchenne/Becker muscular dystrophy Neuronal Ceroid Lipofuscinosis, 5
Dyskeratosis congenita, autosomal recessive 5 Neuronal Ceroid Lipofuscinosis, 8
Dysprothrombinemia (congenital prothrombin deficiency) Niemann-Pick disease Type A & B
Ehlers Danlos, type ViiC (dermatosparaxis type) Niemann-Pick disease Type C1
Enhanced s-cone syndrome Niemann-Pick disease Type C2
ERCC6- and ERCC8-related disorders Nijmegen Breakage syndrome
Fabry disease Omenn syndrome
Factor XI deficiency Ornithine transcarbamylase deficiency
Familial dysautonomia (Riley-Day syndrome) Papillon-Lefèvre syndrome
Familial Hypercholesterolemia Pendred syndrome
Familial Mediterranean Fever Phenylketonuria (PKU)
Fanconi anemia, type A Phosphoglycerate dehydrogenase deficiency (Neu-Laxova syndrome)
Fanconi anemia, type C Polycystic kidney disease 4, autosomal recessive
FKTN-related muscular dystrophies, including Walker-Warburg syndrome Polyglandular autoimmune syndrome, type 1
Fragile X syndrome Pontocerebellar hypoplasia
Fumarase deficiency Primary ciliary dyskinesia
Galactosemia Primary systemic carnitine deficiency
Gaucher disease Progressive pseudorheumatoid dysplasia (Spondyloepiphyseal dysplasia tarda with progressive arthropathy)
GJB2-related hearing loss (Connexin26) Pseudocholinesterase deficiency
GJB6-related hearing loss (Connexin 30) Pycnodysostosis
Glaucoma 3A, Anterior segment dysgenesis 6 Recurrent hydatidiform mole-1
Glucose 6 phosphate dehydrogenase deficiency Renal tubular acidosis with deafness
Glutaric aciduria, type 1 Retinitis pigmentosa
Glycogen Storage disease, type 1a (von Gierke) Retinoschisis X-linked
Glycogen Storage Disease Ib (von Gierke) Rett syndrome and associated disorders
Glycogen storage disease II (Pompe) Rhizomelic chondrodysplasia punctata type 1
Glycogen storage disease type IIIa/b (Cori/Forbes) Salla disease
Glycogen Storage disease, type IV (Anderson) Sandhoff disease
Glycogen storage disease, type V (McArdle) Segawa syndrome
Glycogen storage disease, type VII (Tarui) Short chain Acyl-CoA dehydrogenase deficiency (SCAD deficiency)
GM1 gangliosidosis II Sickle cell Disease
GRACILE syndrome (Growth Retardation, Amino aciduria Cholestasis Iron overload and Early death) Sjögren-Larsson syndrome
Gyrate atrophy of choroid and retina SLC26A2-related disorders, including Achondrogenesis type 1b
Heme oxygenase 1 deficiency Smith-Lemli-Opitz syndrome
Hemochromatosis type 1 Spastic paraplegia 49
Hemophilia B (Christmas disease) Spinal muscular atrophy
Hereditary Fructose Intolerance Tay-Sachs disease
Hermansky-Pudlak syndrome 3 Tricho-Hepato-Enteric syndrome
Homocystinuria, CBS deficient Tyrosinemia type I
Hyperinsulinism, familial 1 Usher syndrome Type 1F
Hyperoxaluria, Primary Usher syndrome Type 2A
Hypoaldosteronism, congenital, due to CMO I/II deficiency Usher syndrome Type 3
Hypohidrotic ectodermal dysplasia autosomal recessive, type 10 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency)
Hypophosphatasia, infantile/childhood Werner syndrome
Inclusion body myopathy 2 (Nonaka myopathy), Sialuria Wilson disease
Isolate growth hormone deficiency, type 1B Woolly Hair/Hypotrichosis syndrome (Hypotrichosis 7)
Isovaleric acidemia Zellweger spectrum disorders (Peroxisome biogenesis disorders)