Conditions Tested

Alpha-1-antitrypsin deficiency

Achromatopsia 3

Adrenoleukodystrophy, X-linked

Albinism, oculocutaneous, type IA


Alpha Mannosidosis types I and II

Alpha Thalassemia

Alpha-methylacetoacetic aciduria (aka Beta-Ketothiolase deficiency)

Alport syndrome

Andermann syndrome (aka Agenesis of the corpus callosum with peripheral neuropathy)

Argininosuccinate lyase deficiency

Arthrogryposis, mental retardation, and seizures

Asparagine synthetase deficiency


Ataxia with vitamin E deficiency

Ataxia-telangiectasia syndrome

Autosomal recessive deafness, 7 and 11

Autosomal recessive Spastic ataxia of Charlevoix-Saguenay type

Bardet-Biedl syndrome

Bernard-Soulier syndrome

Beta Thalassemia

Biotinidase deficiency

Bloom syndrome

Canavan disease

Carnitine palmitoyltransferase (CPT) 1A deficiency

Carnitine palmitoyltransferase II (CPT) deficiency

Cartilage-hair hypoplasia– Anauxetic Dysplasia Spectrum Disorders

Cerebrotendinous xanthomatosis

Ceroid lipofuscinosis, neuronal, 2

Cholesteryl ester storage disease, (aka Wolman syndrome)



Chronic granulomatous disease autosomal recessive due to cytochrome b-negative deficiency

Citrullinemia type I

Cohen syndrome

Combined pituitary hormone deficiency-2

Congenital adrenal hyperplasia (21 hydroxylase deficiency)

Congenital amegakaryocytic thrombocytopenia

Congenital disorder of glycosylation type 1b

Congenital disorder of Glycosylation, type 1a

Congenital Insensitivity to Pain with Anhidrosis

Costeff syndrome aka 3-Methylglutaconic aciduria type 3

Cystic fibrosis


D-bifunctional protein deficiency, Perrault syndrome

Dihydropyrimidine dehydrogenase deficiency, 5-Fluorouracil toxicity

Duchenne/Becker muscular dystrophy

Dyskeratosis congenita, autosomal recessive 5

Dysprothrombinemia (aka congenital prothrombin deficiency)

Ehlers Danlos, type ViiC (dermatosparaxis type)

Enhanced s-cone syndrome

ERCC6-related disorders

ERCC8-related disorders

Fabry disease

Factor X1 deficiency

Familial dysautonomia (aka Riley-Day syndrome)

Familial Hypercholesterolemia

Familial Mediterranean fever

Fanconi anemia, type A

Fanconi anemia, type C

FKTN- related muscular dystrophies, inclduing Walker-Warburg syndrome

Fragile X syndrome

Fumarase deficiency


Gaucher disease

GJB2-related hearing loss (Connexin26)2

GJB6-related hearing loss (Connexin 30)

Glaucoma 3A, Anterior segment dysgenesis 6

Glucose 6 phosphate dehydrogenase deficiency

Glutaric aciduria, type 1

Glycogen Storage Disease Ib (von Gierke)

Glycogen storage disease II (Pompe)

Glycogen storage disease type IIIa/b (Cori/Forbes)

Glycogen Storage disease, type 1a (von Gierke)

Glycogen Storage disease, type IV (Anderson)

Glycogen storage disease, type V (McArdle)

Glycogen storage disease, type VII (Tarui)

GM1 gangliosidosis II

GRACILE syndrome (Growth Retardation, Amino aciduria Cholestasis Iron overload and Early death)

Gyrate atrophy of choroid and retina

HARP  syndrome  (Hypoprebetalipoproteinemia, Acanthocytosis, R-retinitis pigmentosa, and Pallidal degeneration)

Heme oxygenase 1 deficiency

Hemochromatosis type 1

Hemophilia B (Christmas disease)

Hereditary Fructose Intolerance

Hermansky-Pudlak syndrome 3

Homocystinuria, CBS deficient

Hyperinsulinism, familial 1

Hyperoxaluria, Primary

Hypoaldosteronism, congenital, due to CMO I/II deficiency

Hypohidrotic ectodermal dysplasia autosomal recessive, type 10

Hypophosphatasia, infantile/childhood

Inclusion body myopathy 2 (Nonaka myopathy), Sialuria

Isolate growth hormone deficiency, type 1B

Isovaleric acidemia

Joubert syndrome 2, Meckel syndrome 2

Krabbe disease

LAMA3-related epidermolysis bullosa

LAMB3- related epidermolysis bullosa

LAMC2- related junctional epidermolysis bullosa

Limb-girdle muscular dystrophy

Liver failure acute infantile

Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD deficiency)

Maple syrup urine disease type 1A

Maple syrup urine disease type 1B

Maple syrup urine disease type 2

Maple Syrup Urine disease, type 3, aka Dihydrolipoamide dehydrogenase deficiency

Medium-chain acyl-coenzyme A dehydrogenase deficiency

Megalencephalic leukoencephalopathy with subcortical cysts

Metachromatic leukodystrophy

Methylmalonic acidemia and homocystinuria cblC

Methylmalonic acidemia, mut-Type

Methylmalonic aciduria cblA type

Methylmalonic aciduria cblB type

Microcephaly, postnatal progressive, with seizures and brain atrophy

Microphthalmia with coloboma 3

Mitochondrial complex I deficiency

Mitochondrial DNA depletion syndrome 1 (MNGIE type)

Mucolipidosis II/III alpha/beta (I cell disease)

Mucolipidosis IV (Sialolipidosis)

Mucopolysaccharidosis II (Hunter syndrome)

Mucopolysaccharidosis type Ih (Hurler syndrome)

Mucopolysaccharidosis type V1 (Maroteaux-Lamy syndrome)

Mucopolysaccharidosis type VII (Sly syndrome)

Mucopolysaccharidosis Ih/s (Hurler-Scheie syndrome)

Mucopolysaccharidosis Is (Scheie syndrome)

Mucopolysaccharidosis, type IIIA (Sanfilippo syndrome A)

Mucopolysaccharidosis, type III-B (Sanfilippo syndrome B)

Mucopolysaccharidosis, type IVA (Morquio syndrome A)

Multiple sulfatase deficiency

Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency

Myopathy, lactic acidosis, and sideroblastic anemia 1

Nemaline myopathy 2

Nephrotic syndrome, type 1 (aka Finnish nephrosis)

Nephrotic syndrome, type 2

Neurodegeneration with brain iron accumulation 1 (Pantothenate kinase-associated neurodegeneration)

Neuronal Ceroid Lipofuscinosis

Niemann-Pick disease

Nijmegen Breakage syndrome

Omenn syndrome

Ornithine transcarbamylase deficiency

Papillon-Lefèvre syndrome

Pendred syndrome

Phenylketonuria (PKU)

Phosphoglycerate dehydrogenase deficiency (aka Neu-Laxova syndrome)

Polycystic kidney disease 4, autosomal recessive

Polyglandular autoimmune syndrome, type 1

POMGNT1-related muscular dystrophies (Walker-Warburg syndrome)

Pontocerebellar hypoplasia

Primary ciliary dyskinesia

Primary systemic carnitine deficiency

Progressive pseudorheumatoid dysplasia (aka Spondyloepiphyseal dysplasia tarda with progressive arthropathy)

Pseudocholinesterase deficiency


Recurrent hydatidiform mole-1

Renal tubular acidosis with deafness

Retinitis pigmentosa

Retinoschisis X-linked

Rett syndrome and associated disorders

Rhizomelic chondrodysplasia punctata type 1

Salla disease

Sandhoff disease

Segawa syndrome

Short chain Acyl-CoA dehydrogenase deficiency

Sickle cell anemia

Sjögren-Larsson syndrome

SLC26A2-related disorders, including Achondrogenesis type 1b

Smith-Lemli-Opitz syndrome

Spastic paraplegia 49

Spinal muscular atrophyTay-Sachs disease (aka GM2-gangliosidosis)

Thiamine-responsive megaloblastic anemia syndrome

Tricho-Hepato-Enteric syndrome

Tyrosinemia type I

Usher syndrome

Very long chain acyl-CoA dehydrogenase deficiency

Werner syndrome

Wilson disease

Woolly Hair/Hypotrichosis syndrome (aka Hypotrichosis 7)

Zellweger spectrum disorders (aka Peroxisome biogenesis disorders)