Other Genetic Screening Tests

Sickle-Cell Carrier Testing

Individuals of African-American descent have about a 10% chance of being a silent carrier for the sickle-cell mutation. The carrier is unaffected, but two carriers have a 1/4 chance of producing an affected child. If both parents are African-American and have not been tested for sickle-cell carrier trait, we will need to run this test. 

Tay-Sachs Disease Carrier Testing

Tay-Sachs disease is a genetic disease inherited in the same manner as CF (see above). Ashkenazi Jews have about a 1/27 chance of being a carrier for this condition. Carriers have no symptoms. Ashkenazi Jews also have a 1/29 chance of being a carrier for CF and a 1/40 chance of being a carrier for a rare disease called Canavan Syndrome. All of these carrier states can be identified if looked for. If both parents are of Ashkenazi heritage, then all three of these genetic conditions are usually tested for.

Both Tay-Sachs disease and Canavan disease cause progressive neurological deterioration and are incurable. Even with the best medical care, infants born with either of these conditions usually die by age 5.

Ashkenazi Jewish Carrier Screening 

As genetic tests become easier to perform, many are being combined into a panel. In particular, people of Ashkenazi Jewish descent have been found to be at increased risk for being a carrier of many different genetic conditions.The list of conditions keeps getting longer. For more information please follow the link.