The Jewish disease panel determines an individual’s disease and carrier status for ten inherited diseases – Bloom syndrome, Canavan disease, Familial dysautonomia, Fanconi anemia, Gaucher disease, Glycogen storage disease, Maple syrup urine disease, Mucolipidosis, Niemann-Pick disease and Tay-Sachs disease. Cystic fibrosis is another common disease affecting Ashkenazi Jews and other Caucasians worldwide. Testing for cystic fibrosis is recommended for Ashkenazi Jews and is available in conjunction with the ten diseases listed above. More information on cystic fibrosis is available here.
Each of these diseases are inherited in an autosomal recessive pattern. People who have two copies of a disease-causing mutation will suffer from the disease symptoms, while those that have only one copy of a disease-causing mutation are known as carriers and are unlikely to suffer any symptoms, but can still pass the genetic mutation to the next generation. If a couple both carry a defective copy of a particular disease-associated gene, there is a 25% chance that their child will inherit two defective copies of the gene and suffer from the disease. Each of these diseases have a high carrier frequency (see What are Jewish Diseases?), so carrier screening is very important in people of Ashkenazi Jewish heritage.
What Mutations are Screened for in this Jewish Disease Panel?
This Jewish disease panel analyzes 36 different mutations that cause ten inherited diseases (see table below). These mutations account for >90% of these specific diseases in Ashkenazi Jewish people, and in some cases the mutations tested here are the only mutations that have been detected for a particular disease in affected Ashkenazi Jewish people. However, for many of the diseases, other mutations are more commonly detected in non-Jewish people.
||E285A, Y231X, IVS2-2A>G, A305E
|Fanconi Anemia Group C
||L444P, N370S, 84insG, IVS2+1G>A, V394L, D409H, delta55bp, R496H
|Glycogen Storage Disease Type IA
|Maple Syrup Urine Disease
||Y438N (BCKDHA) and R183P, G278S, E372X (BCKDHB)
|Mucolipidosis Type IV
|Niemann-Pick Disease Type A and B
||R496L, L302P, fsp330, delta608
||1278insTATC, IVS12+1G>C, IVS9+1G>A, delta7.6kb, G269S, R249W, R247W
None. This test can be taken at any age.
Buccal swabs. The test kit contains buccal swabs and instructions for collecting a buccal swab sample from inside the mouth.
Four buccal swabs, rubbed inside the mouth against the cheek for 15 seconds.
1 – 2 weeks.
Genetic mutations shown in the table above
Laboratory specimens are analyzed to detect the presence of the mutations listed above. Analytical specificity and sensitivity for detection of these alleles are >99%. Other mutations not listed are not detected.
DNA test kits do not have an expiry date and can be used at any time. Once the DNA sample is collected, it must be returned to the laboratory for testing within three months of collection. No refrigeration is required. Store at room temperature.
This Jewish disease panel will only detect the mutations listed in the table above. These mutations account for 90-100% of the previously identified cases for each of these diseases in Ashkenazi Jewish individuals. However, other mutations may cause the disease in some Jewish individuals and this panel will not detect these other mutations. These mutations are the most common causes of these diseases in people of Ashkenazi Jewish heritage, but other mutations may be more common in other ethnicities and will not be identified in this panel.
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