Most children with Jewish genetic disorders are born to parents who did not know that they were carriers and had no family history of these disorders. Carrier parents don’t have the disorder themselves, but can still pass on the faulty gene to their children who could then also be carriers.
Carriers of a recessive disorder are healthy with no signs of the disorder, and they are not at risk of developing the disorder.
If both parents are carriers of a mutation of the same disorder gene, there is a 25% chance of having an affected child, a 50% chance of the child being a carrier like themselves, and a 25% chance of the child being neither affected nor a carrier.
Three of the most common Jewish genetic disorders are Tay-Sachs Disease, Familial Dysautonomia and Canavan Disease. These are tested free-of-charge through the Montreal University Health Centre (MUHC). See “How to get tested”.
A number of additional disorders can be tested through private companies and include:
- Bloom’s Syndrome
- Cystic Fibrosis
- Gaucher disease
- Spinal muscular atrophy
- Familial hyperinsulinism
- Maple syrup urine disease
- Glycogen storage disease, type 1A
- Niemann-Pick disease
- Fanconi anemia
- Joubert syndrome 2
- Dihydrolipoamide dehydrogenase deficiency (a type of maple syrup urine disease)
- Usher syndrome, Type III and Type 1F
- Mucolipidosis Type IV
- Nemaline myopathy
- Walker-Warburg syndrome