Table 4.5.
Counsyl genetic panel of recessive single gene disorders
| ABCC8-related hyperinsulinism | Cohen syndrome | Hereditary fructose intolerance | Muscle-eye-brain disease | Smith-Lemli-Opitz syndrome |
| Achromatopsia | Congenital disorder of glycosylation type Ia | Hereditary thymine-uraciluria | NEB-related nemaline myopathy | Spinal muscular atrophy |
| Alkaptonuria | Congenital disorder of glycosylation type Ib | Herlitz junctional epidermolysis bullosa, LAMA3-related | Niemann-Pick disease type c | Steroid-resistant nephrotic syndrome |
| Alpha-1 antitrypsin deficiency | Congenital Finnish nephrosis | Herlitz junctional epidermolysis bullosa, LAMB3-related | Niemann-Pick disease, SMPD1-associated | Sulfate transporter-related osteochondrodysplasia |
| Alpha-mannosidosis | Costeff optic atrophy syndrome | Herlitz junctional epidermolysis bullosa, LAMC2-related | Nijmegen breakage syndrome | Tay-Sachs disease |
| Andermann syndrome | Cystic fibrosis | Hexosaminidase A deficiency | Northern epilepsy | TPP1-related neuronal ceroid lipofuscinosis |
| ARSACS | Cystinosis | HFE-associated hereditary hemochromatosis | Pendred syndrome | Tyrosinemia type I |
| Aspartylglycosaminuria | D-bifunctional protein deficiency | Homocystinuria caused by cystathionine beta-synthase deficiency | PEX1-related Zellweger syndrome spectrum | Usher syndrome type 1F |
| Ataxia with vitamin E deficiency | Factor V Leiden thrombophilia | Hurler syndrome | Phenylalanine hydroxylase deficiency | Usher syndrome type 3 |
| Ataxia-telangiectasia | Factor XI deficiency | Hypophosphatasia, autosomal recessive | Pompe disease | Very long-chain acyl-coA dehydrogenase deficiency |
| Autosomal recessive polycystic kidney disease | Familial dysautonomia | Inclusion body myopathy 2 | PPT1-related neuronal ceroid lipofuscinosis | Wilson disease |
| Bardet-Biedl syndrome, BBS1-related | Familial Mediterranean fever | Isovaleric acidemia | Primary carnitine deficiency | X-linked juvenile retinoschisis |
| Bardet-Biedl syndrome, BBS10-related | Fanconi anemia type C | Joubert syndrome 2 | Primary hyperoxaluria type 1 | |
| Beta-thalassemia | Fragile X syndrome | Krabbe disease | Primary hyperoxaluria type 2 | |
| Biotinidase deficiency | Galactosemia | Limb-girdle muscular dystrophy type 2d | PROP1-related combined pituitary hormone deficiency | |
| Bloom syndrome | Gaucher disease | Limb-girdle muscular dystrophy type 2e | Prothrombin thrombophilia | |
| Canavan disease | GJB2-related DFNB 1 nonsyndromic hearing loss and deafness | Lipoamide dehydrogenase deficiency | Pseudocholinesterase deficiency | |
| Carnitine palmitoyltransferase IA deficiency | Glucose-6-phosphate dehydrogenase deficiency | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | Pycnodysostosis | |
| Carnitine palmitoyltransferase II deficiency | Glutaric acidemia type 1 | Maple syrup urine disease type 1B | Rhizomelic chondrodysplasia punctata type 1 | |
| Cartilage-hair hypoplasia | Glycogen storage disease type Ia | Medium-chain acyl-CoA dehydrogenase deficiency | Salla disease | |
| Choroideremia | Glycogen storage disease type Ib | Megalencephalic leukoencephalopathy with subcortical cysts | Segawa syndrome | |
| Citrullinemia type 1 | Glycogen storage disease type III | Metachromatic Leukodystrophy | Short-chain acyl-CoA Dehydrogenase deficiency | |
| CLN3-related neuronal ceroid lipofuscinosis | Glycogen storage disease type V | MTHFR deficiency | Sickle cell disease | |
| CLN5-related neuronal ceroid lipofuscinosis | GRACILE syndrome | Mucolipidosis IV | Sjogren-Larsson syndrome |