| 3-Methylglutaconic aciduria type 3 | 2 tests |
| Abetalipoproteinaemia | 2 tests |
| Achromatopsia 3 | 2 tests |
| Agenesis of the corpus callosum with peripheral neuropathy | 2 tests |
| Alkaptonuria | 2 tests |
| Alpha-1-antitrypsin deficiency | 1 test |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 3 tests |
| Aspartylglucosaminuria | 2 tests |
| Ataxia-telangiectasia syndrome | 2 tests |
| Atelosteogenesis type II | 2 tests |
| Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 2 tests |
| Autosomal recessive Alport syndrome | 2 tests |
| Autosomal recessive DOPA responsive dystonia | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 1A | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 4 | 2 tests |
| Autosomal recessive polycystic kidney disease | 2 tests |
| Bardet-Biedl syndrome 1 | 2 tests |
| Bardet-Biedl syndrome 10 | 2 tests |
| Biotinidase deficiency | 2 tests |
| Bloom syndrome | 2 tests |
| Bordetella parapertussis infectious disease | 1 test |
| Breast cancer, susceptibility to | 2 tests |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 2 tests |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 1 test |
| COVID-19 | 4 tests |
| Carcinoma of colon | 1 test |
| Carcinoma of pancreas | 1 test |
| Carnitine palmitoyl transferase 1A deficiency | 2 tests |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 2 tests |
| Charlevoix-Saguenay spastic ataxia | 2 tests |
| Choroideremia | 2 tests |
| Citrullinemia type I | 2 tests |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 test |
| Classic homocystinuria | 2 tests |
| Classical phenylketonuria | 1 test |
| Cohen syndrome | 2 tests |
| Colorectal cancer, susceptibility to, 10 | 1 test |
| Colorectal cancer, susceptibility to, 12 | 1 test |
| Congenital amegakaryocytic thrombocytopenia | 2 tests |
| Congenital prothrombin deficiency | 3 tests |
| Cystic fibrosis | 7 tests |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2 tests |
| Deficiency of alpha-mannosidase | 2 tests |
| Deficiency of butyryl-CoA dehydrogenase | 2 tests |
| Deficiency of steroid 11-beta-monooxygenase | 1 test |
| Dihydropyrimidine dehydrogenase deficiency | 2 tests |
| Duchenne muscular dystrophy | 2 tests |
| Dyskeratosis congenita, autosomal recessive 1 | 2 tests |
| Ehlers-Danlos syndrome, dermatosparaxis type | 2 tests |
| Endometrial carcinoma | 1 test |
| Enterovirus infectious disease | 1 test |
| Factor V deficiency | 1 test |
| Familial Mediterranean fever | 2 tests |
| Familial adenomatous polyposis 1 | 1 test |
| Familial adenomatous polyposis 2 | 1 test |
| Familial cancer of breast | 1 test |
| Familial colorectal cancer | 1 test |
| Familial dysautonomia | 5 tests |
| Familial isolated deficiency of vitamin E | 2 tests |
| Fanconi anemia complementation group C | 4 tests |
| Finnish congenital nephrotic syndrome | 2 tests |
| Fragile X syndrome | 7 tests |
| GRACILE syndrome | 2 tests |
| Galactosylceramide beta-galactosidase deficiency | 2 tests |
| Gaucher disease type I | 4 tests |
| Generalized juvenile polyposis/juvenile polyposis coli | 1 test |
| Glucose-6-phosphate transport defect | 2 tests |
| Glutaric aciduria, type 1 | 2 tests |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 4 tests |
| Glycogen storage disease type III | 2 tests |
| Glycogen storage disease, type II | 2 tests |
| Glycogen storage disease, type V | 2 tests |
| Hb SS disease | 4 tests |
| Hereditary cancer-predisposing syndrome | 1 test |
| Hereditary factor XI deficiency disease | 2 tests |
| Hereditary fructosuria | 2 tests |
| Hurler syndrome | 2 tests |
| Hyperinsulinemic hypoglycemia, familial, 1 | 4 tests |
| Infantile hypophosphatasia | 2 tests |
| Influenza | 3 tests |
| Isovaleryl-CoA dehydrogenase deficiency | 2 tests |
| Joubert syndrome 2 | 4 tests |
| Junctional epidermolysis bullosa gravis of Herlitz | 2 tests |
| Junctional epidermolysis bullosa, non-Herlitz type | 2 tests |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 test |
| Juvenile retinoschisis | 2 tests |
| Kugelberg-Welander disease | 5 tests |
| Legionnaire disease, susceptibility to | 1 test |
| Li-Fraumeni syndrome 1 | 1 test |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2 tests |
| Lynch syndrome 1 | 1 test |
| Lynch syndrome 4 | 1 test |
| Lynch syndrome 5 | 1 test |
| Lynch syndrome 8 | 1 test |
| MPI-congenital disorder of glycosylation | 2 tests |
| Malignant tumor of prostate | 1 test |
| Maple syrup urine disease | 4 tests |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 tests |
| Megalencephalic leukoencephalopathy with subcortical cysts | 1 test |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 test |
| Melanoma, cutaneous malignant, susceptibility to, 2 | 1 test |
| Melanoma, cutaneous malignant, susceptibility to, 3 | 1 test |
| Metachromatic leukodystrophy | 2 tests |
| Metaphyseal chondrodysplasia, McKusick type | 2 tests |
| Microcephaly, normal intelligence and immunodeficiency | 2 tests |
| Mismatch repair cancer syndrome 1 | 1 test |
| Mucolipidosis type IV | 4 tests |
| Muir-Torré syndrome | 1 test |
| Multiple sulfatase deficiency | 2 tests |
| Muscle eye brain disease | 2 tests |
| Mycoplasma pneumoniae pneumonia | 1 test |
| Nemaline myopathy 2 | 4 tests |
| Nephropathic cystinosis | 2 tests |
| Nephrotic syndrome, type 2 | 2 tests |
| Neu-Laxova syndrome 1 | 2 tests |
| Neuronal ceroid lipofuscinosis 1 | 2 tests |
| Neuronal ceroid lipofuscinosis 2 | 2 tests |
| Neuronal ceroid lipofuscinosis 3 | 2 tests |
| Neuronal ceroid lipofuscinosis 5 | 2 tests |
| Neuronal ceroid lipofuscinosis 8 | 2 tests |
| Niemann-Pick disease, type A | 4 tests |
| Niemann-Pick disease, type C1 | 2 tests |
| PMM2-congenital disorder of glycosylation | 2 tests |
| Pancreatic cancer, susceptibility to, 2 | 1 test |
| Pancreatic cancer, susceptibility to, 3 | 1 test |
| Pancreatic cancer, susceptibility to, 4 | 1 test |
| Parainfluenza infectious disease | 1 test |
| Pendred syndrome | 2 tests |
| Peroxisome biogenesis disorder 1A (Zellweger) | 2 tests |
| Perrault syndrome 1 | 2 tests |
| Pertussis | 1 test |
| Peutz-Jeghers syndrome | 1 test |
| Phenylketonuria | 1 test |
| Pituitary hormone deficiency, combined, 2 | 2 tests |
| Polyglandular autoimmune syndrome, type 1 | 2 tests |
| Primary hyperoxaluria, type I | 2 tests |
| Primary hyperoxaluria, type II | 2 tests |
| Pyknodysostosis | 2 tests |
| Pyruvate dehydrogenase E3 deficiency | 4 tests |
| Renal carnitine transport defect | 2 tests |
| Retinitis pigmentosa 59 | 2 tests |
| Rhabdoid tumor predisposition syndrome 2 | 1 test |
| Rhizomelic chondrodysplasia punctata type 1 | 2 tests |
| Sialic acid storage disease, severe infantile type | 2 tests |
| Sialuria | 2 tests |
| Sjögren-Larsson syndrome | 2 tests |
| Smith-Lemli-Opitz syndrome | 2 tests |
| Spinal muscular atrophy | 3 tests |
| Spinal muscular atrophy, type II | 3 tests |
| Spongy degeneration of central nervous system | 5 tests |
| Tay-Sachs disease | 5 tests |
| Thrombophilia due to activated protein C resistance | 1 test |
| Tyrosinemia type I | 2 tests |
| Usher syndrome type 1F | 4 tests |
| Usher syndrome type 3 | 4 tests |
| Varicella zoster infection | 1 test |
| Very long chain acyl-CoA dehydrogenase deficiency | 2 tests |
| Werdnig-Hoffmann disease | 5 tests |
| Wilson disease | 2 tests |
| alpha Thalassemia | 3 tests |
| beta Thalassemia | 3 tests |
| respiratory syncytial virus infection | 2 tests |
