Knowing about Jewish Genetic Diseases (JGDs) is a first step toward having healthy babies
Sometimes the process seems overwhelming…should I or shouldn’t I get screened? The simple answer is YES. If you are Jewish, if you have even one Jewish grandparent, in an interfaith relationship, straight or gay and between the ages of 18–44 and planning on having children, you should get screened.
Between 25 and 50 percent of Ashkenazi Jews screened are carriers for one or more Jewish genetic disease. If you and your partner are both carriers for the same genetic disease, there is a 25% chance with each pregnancy of having an affected child.
Getting screened before becoming pregnant, and before every subsequent pregnancy, if testing for additional diseases becomes available, can prevent the possibility of having an affected child. Here are some answers to common questions—
What does it mean to get screened for JGDs?
It’s as simple as taking a blood test. *
If you are found to be a carrier, you are still healthy and not at risk for developing a JGD. What is at risk is the increased possibility that you will pass on a gene for Jewish genetic disease to your future children. That’s why we recommend that screening be performed before getting pregnant so that people have the most options to have a healthy baby. All individuals and couples who are screened through the Victor Center receive genetic counseling as part of the screening process.
* Testing for JGDs with a saliva kit, an alternative method currently being offered, only measures for a limited number of mutations in the Tay-Sachs gene and some carrier individuals are likely to be missed. Therefore, we recommend that you get screened using a blood sample, not a saliva swab.
What diseases are screened for at the Victor Center?
The Jewish community across the U.S. remains generally unaware of the need to test for these diseases. A simple blood test allows people to learn if they are carriers. This is where the Victor Center steps in. Since testing for Tay-Sachs began in the 1970s, breakthroughs in the field of genetic research and technology have yielded dramatic increases in the number of autosomal recessive disorders found with greater than average frequency in the Ashkenazi Jewish population.
These diseases are severe and often fatal. The only cure is education and prevention. A simple blood test can provide the information required to make educated reproductive choices.
- 3 Phosphoglycerate Dehydrogenase Deficiency
- Arthrogrypisis, Mental Retardation and Seizures
- Bardet Biedl Syndrome
- Bloom Syndrome
- Canavan Disease
- Carnitine Palmitoyltransferase II Deficiency
- Congenital Amegakaryocytic Thrombocytopenia
- Congenital Disorder of Glycosylation 1a
- Cystic Fibrosis (CF)
- Dihydrolipoamide Dehydrogenase Deficiency (DLD Deficiency)
- Dyskeratosis Congenita
- Ehlers Danlos Syndrome VIIC
- Familial Dysautonomia (FD)
- Familial Hyperinsulinism (FHI)
- Fanconi Anemia Type C
- Fragile X Syndrome (Optional)
- Gaucher Disease Type I
- Glycogen Storage Disease Type IA (GSDIA)
- Joubert Syndrome
- Maple Syrup Urine Disease (MSUD)
- Mucolipidosis IV (ML IV)
- Multiple Sulfatase Deficiency
- Nemaline Myopathy
- Niemann-Pick Disease Type A
- Peroxisome Biogenesis Disorder 5A
- Polycystic Kidney Disease, Autosomal Recessive
- Retinitis Pigmentosa
- Smith-Lemli-Opitz Syndrome
- Spinal Muscular Atrophy (SMA)
- Tay-Sachs Disease (enzyme and DNA)
- Tyrosinemia type 1
- Usher Syndrome Type IF
- Usher Syndrome Type III
- Walker-Warburg Syndrome
- Wilson Disease
Why should I be screened for JGDs?
Knowing if you are a carrier for one of the JGDs preventable Jewish genetic diseases empowers you with knowledge that can be used to make the family planning decisions that are right for you. Since carriers show no sign of the disease, the only ways to find out that you are a carrier are to have a blood test or have a child with one of these diseases.
Discuss genetic testing with your healthcare provider if you are Jewish—or have even one grandparent who is Jewish—and are thinking about having a baby. Gay and interfaith couples who fit this profile should also be screened.
Where can I be screened?
- At your physician or OB/GYN. Request to be screened for the JGDs above. If your doctor does not screen for JGDs, please contact the Victor Center at 877.401.1093, or firstname.lastname@example.org.
- At a Victor Center community screening. Check our website for upcoming dates.
- At a Victor Center location.
What does genetic screening entail?
Genetic tests for JGDs are done on a small sample of blood (about a thimble-full). The sample is collected and sent to a lab that tests it for certain mutations in your DNA. You will usually receive results within a month. The Victor Center does not recommend saliva-based tests because it cannot measure the Hex A enzyme and does not offer the most accurate results. Only a limited number of mutations in the Tay-Sachs gene will be examined on DNA from saliva and likely will miss carriers.
How much does it cost to be screened through a Victor Center?
The cost of the laboratory fees for the actual genetic screening is billed separately and is billed directly to you/your insurance company from the laboratory.
The average out of pocket costs for Insured Screening Participants are typically less than $99. You will be notified via email, voicemail, and/or text message if the out of pocket amount will exceed $99 by the laboratory.
The cost for Uninsured Screening Participants and/or Self Pay is $349 billed by the laboratory. An additional $199 will be charged if Tay-Sachs Enzyme analysis is ordered.