Ashkenazi Jews and Genetic Mutations: What is an Ashkenazi Jewish Genetic Panel?
Introduction
The Ashkenazi (e.g., Eastern European) Jewish genetic panel (AJGC) is a carrier identification blood test that people of Ashkenazi Jewish descent will sometimes opt to take when they and their partners decide to start a family. Anyone of Ashkenazi Jewish heritage who is interested in undergoing this test may do so – they do not need to come from a family with a history of the diseases the panel tests for – although a physician must order it. The purpose of this test is to see if either parent-to-be is a carrier of one or more rare genetic diseases that are more common to Ashkenazi Jews than the rest of the general population. These include:
- Bloom syndrome
- Canavan disease
- Cystic fibrosis
- Familial dysautonomia
- Fanconi anemia
- Gaucher disease
- Mucolipiosis IV
- Niemann-Pick disease (type A)
- Tay-Sachs disease
- Torsion dystonia
If I am a Carrier, Do I Have the Disease?
Being a carrier of genes that cause a particular disease does not mean that one actually has the disease; it simply means that one can pass this disease on to one’s children. If one or both parents test positive for a particular disease, this means they have an increased chance of giving birth to a child born with this disease. It does not, however, guarantee with utmost certainty that the child will have the disease – if both parents are carriers of a disease, there is a 1-in-4 (25%) chance their child will be afflicted. If one parent is already afflicted with one of these diseases and the other parent is a carrier, there is a 1-in-2 (50%) chance the child will be afflicted.
Are There Other Ways to FInd Out if My Child is a Carrier?
If the couple has not taken the AJGP test and are already pregnant, there are other ways to find out if one’s child has a genetic disease or condition, including undergoing diagnostic tests such as chronic villus sampling (CVS) and amniocentesis. If either (or both) parents are carriers of one or more of these diseases, or their child has one of these diseases, their obstetrician will refer them to a genetic counselor. The role of a genetic counselor is to interpret and explain the results of the test, as well as make the couple aware of all of their risks and options and help them make informed decisions.
Is the Test Accurate?
The AJGP test is approximately 90% accurate, which means that even if the test results are negative, there is still a small chance one may be a carrier of any of these rare genetic diseases.
This post is part of the series: The Ashkenazi Jewish Genetics Panel
This series describes the diseases tested for in the Ashkenazi Jewish Genetics Panel (AJGP).