Reasons for Genetic Testing: Why It Matters

80% of babies with genetic diseases are born to parents with no known family history of that disease. Early genetic screening is an important step in planning for a healthy family, and allows you to take control and make choices about your future.

Everyone wants a healthy baby – and planning for a bright future starts before you decide to become pregnant.

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Being a carrier of a genetic disease means that even though you or your partner do not show symptoms, you can still pass that disease to your child. If you and your partner are both carriers of the same disease gene, each of your children has a 25% chance of being born with the disease itself.

We’re here to help you plan for a healthy family!

Ashkenazi Jewish Carrier Rate 43%

43%
General Population Carrier Rate 24%

24%

We detect nearly two times as many carriers in people of Ashkenazi Jewish descent compared with the general population.

Since diseases in the Jewish community have been extensively studied, we are much better at testing for genetic diseases with a high prevalence in the Jewish community. This also means we have advanced the ability to help families plan for the healthiest possible futures for their children. If you and your partner are both carriers for the same disease, our genetic counselors will provide information and direct you to resources that will help ensure the best possible outcomes for your children.

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My ethnicity is:

Everyone is at risk for being a carrier of a genetic disease:

Diseases All populations Ashkenazi Jewish Northwestern Europe Hispanic African American Eastern Asia South Asia Southern Europe Middle East South East Asia
1 Gaucher disease 1 in 78 1 in 16 1 in 110 1 in 191 1 in 170 1 in 113 1 in 679 1 in 83 1 in 324 1 in 112
2 Cystic Fibrosis 1 in 30 1 in 27 1 in 26 1 in 45 1 in 92 1 in 224 1 in 52 1 in 31 1 in 70 1 in 17
3 Tay-Sachs disease 1 in 171 1 in 30 1 in 290 1 in 563 1 in 1973 1 in 300 1 in 300 1 in 246 1 in 394 1 in 300
4 Familial Dysautonomia 1 in 325 1 in 31 1 in 750 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 974 1 in 500
5 Spinal Muscular Atrophy  1 in 55 1 in 41 1 in 48 1 in 66 1 in 100 1 in 72 1 in 70 1 in 41 1 in 59 1 in 142
6 Canavan disease 1 in 342 1 in 55 1 in 477 1 in 1415 1 in 2591 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500
7 ABCC8 hyperinsulinism 1 in 678 1 in 68 1 in 112 1 in 112 1 in 112 1 in 112 1 in 112 1 in 112 1 in 112 1 in 112
8 Glycogen Storage disease Type 1a 1 in 318 1 in 71 1 in 374 1 in 623 1 in 177 1 in 1819 1 in 177 1 in 319 1 in 862 1 in 177
9 Fanconi Anemia 1 in 568 1 in 90 1 in 723 1 in 158 1 in 158 1 in 158 1 in 158 1 in 158 1 in 158 1 in 158
10 Joubert syndrome 1 in 732 1 in 92 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500
11 Lipoamide Dehydrogenase deficiency 1 in 500 1 in 94 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 431 1 in 500
12 Maple Syrup Urine disease 1 in 518 1 in 97 1 in 635 1 in 250 1 in 250 1 in 250 1 in 250 1 in 250 1 in 862 1 in 250
13 Niemann Pick disease 1 in 658 1 in 100 1 in 250 1 in 842 1 in 1272 1 in 250 1 in 2036 1 in 250 1 in 250 1 in 250
14 Usher syndrome Type 1 1 in 194 1 in 100 1 in 194 1 in 194 1 in 194 1 in 194 1 in 194 1 in 194 1 in 194 1 in 194
15 Mucolipodosis IV 1 in 668 1 in 100 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500
16 Nemaline Myopathy 1 in 500 1 in 108 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500
17 Bloom syndrome 1 in 500 1 in 110 1 in 500 1 in 2103 1 in 2544 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500
18 Usher syndrome Type 3 1 in 681 1 in 120 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500
19 Walker-Warburg syndrome 1 in 500 1 in 150 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500 1 in 500

Never heard of these? You’re not alone. These diseases may be individually rare, but collectively the risk is significant. Everyone is at risk for being a carrier of a genetic condition. Click here to view more information on some diseases that are more commonly found in the Jewish population.

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