Other Screening Tests
Counsyl Universal Genetic test
DNA testing technology has made huge advances in recent years. We can now test for many conditions and for less cost than ever thought possible. Counsyl Genetics Labs (https://www.counsyl.com/) offers a DNA test called the “Universal Genetic Test.”
Currently this test covers more than 100 rare genetic conditions, including every single test listed above, and more. In each case, the genetic condition being tested for is a recessive trait (or a mutation) also called a carrier state. The carrier state is invisible, thus the only way to find out if someone is a carrier is to perform a DNA blood test.
If the mother and the father of an unborn baby both test positive for the same carrier state, then there is a 1 in 4 chance that their child could be born with a genetic disease. Some of the diseases that are inherited in this manner include Cystic Fibrosis, Spinal Muscular Atrophy, Tay-Sachs disease and Sickle-Cell Anemia.
Statistics show that when we test for over 100 conditions, there is about a 25% chance that a person will have at least one of these rare genetic mutations. In the case of a positive test, we would then need to test the spouse or father of the baby to make sure that he does not test positive for the same mutation.
Please feel free to ask us any questions you may have about Genetic Carrier testing.
SICKLE-CELL 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 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 GENETIC PANEL
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.
If both parents are Ashkenazi, then one parent, ideally, should be tested for the following conditions, now available as a panel: Tay-Sachs, Cystic Fibrosis, Gaucher Disease, Canavan Syndrome, Niemann-Pick Disease Type A, Bloom Syndrome, familial dysautonomia, mucolipidosis type IV, glycogen storage disease 1a and Fanconi's anemia.
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CHICKEN POX IMMUNITY
Chicken Pox is caused by a virus called Varicella Zoster Virus (VZV). If someone has ever had chicken pox, or if they have been vaccinated against it, they develop a blood antibody to VZV. This menas that you are forever immune and cannot ever get a chicken pox infection (shingles, a painful blistering skin condition is a rare exception to this).
Even if you are exposed to chicken pox while pregnant, neither you nor your unborn baby is at risk, if you are already immune to VZV. There is a simple blood test we can do to test for this immunity.
SMA and Fragile X Syndrome