Jewish Disease Panel
Find out if you are at risk
- Genetic diseases more commonly affecting individuals of Ashkenazi Jewish descent
- 25% of Ashkenazi Jewish individuals are carriers of a Jewish genetic disease
- This panel tests 10 common Jewish genetic diseases
- Simple mouth swab DNA test with results in 1 – 2 weeks
What is the Jewish Disease Panel?
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. These diseases are more common among people of Ashkenazi Jewish descent and are each 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.
Step-by-Step
The kit can be ordered online, by fax or mail, or by phone. Once you place the order, the testing kit will be shipped directly to you. The kit contains swabs called “buccal swabs”. DNA is collected quickly and easily by rubbing the swabs inside your mouth against the cheek for 30 seconds. Once the DNA is collected, the swabs are placed into the specimen container provided in the kit and returned to the laboratory for testing using the return package included in the testing kit. Once your samples arrive at the laboratory, testing begins immediately and results are available in 1 to 2 weeks.
Jewish Disease Panel
| Disease | Gene Affected | Disease Description |
| Bloom Syndrome
|
BLM
|
A disorder characterized by short stature, sun sensitivity, increased cancer risk and genomic instability, due to inhibited repair of DNA damage. |
| Canavan Disease
|
ASPA
|
A progressive, fatal neurological disorder, due to an accumulation of the N-acetyl-L-aspartic acid (NAA) compound in the brain.
|
| Familial Dysautonomia
|
IKBKAP
|
A disorder of the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature.
|
| Fanconi Anemia Group C
|
FANCC
|
A disorder characterized by increased cancer risk, bone marrow failure and genomic instability, due to inhibited repair of DNA damage.
|
| Gaucher Disease
|
GBA
|
A lipid storage disease characterized by bruising, fatigue, anemia, and enlargement of the liver and spleen, due to the toxic accumulation of a fatty substance (sphingolipids) in organs and tissues. |
| Glycogen Storage Disease Type IA
|
G6PC
|
A polysaccharide storage disease characterized by the toxic accumulation of fat and glycogen in cells, resulting in tissue and organ damage.
|
| Maple Syrup Urine Disease (Type 1A & 1B)
|
BCKDHA and BCKDHB
|
A serious metabolism disorder due to an inability to process leucine, isoleucine and valine and these amino acids accumulate to toxic levels in organs and tissues.
|
| Mucolipidosis Type IV
|
MCOLN1
|
A lysosomal storage disorder characterized by delayed development and vision problems, due to defective mucolipin-1.
|
| Niemann-Pick Disease (Type A and B)
|
SMPD1
|
A lysosomal storage disease caused by defective acid sphingomyelinase, which is important for lipid metabolism. Fat accumulates in cells leading to cell death and tissue and organ damage.
|
| Tay-Sachs Disease
|
HEXA
|
A neurodegenerative disease caused by toxic levels of GM2 ganglioside destroying the neurons in the brain and spinal cord. |
Frequently Asked Questions
Get Started
Jewish Disease Learning Center
What is Tay-Sachs Disease?
Tay-Sachs disease is a rare genetic disorder characterized by progressive degeneration of nerve cells in the brain and spinal cord. The signs and symptoms vary depending on the age of onset and type of disease. [...]
What is Niemann-Pick Disease?
Niemann-Pick disease is an inherited genetic disorder characterized by abnormal lipid metabolism, resulting in the accumulation of fats in various organs, particularly the liver, spleen, brain and bone marrow. The signs and symptoms vary in [...]
What is Glycogen Storage Disease Type Ia?
Glycogen storage disease type Ia (GSDIa) is a genetic disorder characterized by accumulation of glycogen in organs and tissues, impairing their normal function. This can lead to organ damage and other complications if left untreated. [...]