Genetic Disorders


 

Disorders on the Panel

The Center's carrier screening program currently screens for 190 recessive conditions, including about 75 conditions that occur more frequently among Ashkenazi Jews and Sephardic Jews. 

About the Conditions on the Panel

All conditions on the panel are passed down in an autosomal recessive or X-linked fashion.

Autosomal recessive inheritance means that an individual must have two copies of a gene mutation – one inherited from each parent – for the disease to occur. If you and your partner are carriers for the same disease, with each pregnancy, your child will have a 25% chance of being affected, a 50% chance of being a carrier and a 25% chance of being neither affected nor a carrier.

X-linked disorders are typically passed down from carrier mothers to male children. Only women are screened for X-linked conditions in our carrier screening program, since it is highly unlikely for males to be carriers for X-linked disorders without showing symptoms.

Because our panel includes an additional eleven X-linked conditions for women, we recommend screening the female partner first in cases when partners decide not to be tested at the same time. If results show that the female partner is a carrier for one or more disorders, screening is recommended for the male partner to determine if he is a carrier for the same condition.

The conditions included on the screening panel are severe and may have an impact on a person’s quality of life. Many of the conditions have limited or no treatment, require early intervention, or may result in shortened life expectancy. Knowing your carrier status prior to pregnancy allows you to make informed decisions when planning for a family. Couples that are found to be carriers for the same conditions have many options, including: natural conception (pre-natal testing via chorionic villus sampling or amniocentesis is available), pre-implantation genetic testing (PGT) prior to in vitro fertilization (IVF), using a sperm or egg donor, or adoption. Even patients who choose not to alter their family planning approach may benefit from knowledge that can help them prepare if a future child needs early intervention.

Carriers of recessive conditions are usually healthy, since two gene mutations are required to cause the disease. In rare cases, knowing you are a carrier for a certain condition may have implications for your own health. If you are found to be a carrier for a condition that may impact your own health, our Center’s genetic counselor will provide you with guidance for your own medical management. 

List of Conditions on the Screening Panel

*Askenazi Jewish condition (also bolded)

^Sephardi Jewish condition (also bolded)

**X-linked condition

 

Baby1

Our affordable, accessible carrier screening program uses advanced technology to provide comprehensive screening for Jewish and interfaith couples. Visit our Get Screened page to learn more about our program and how to register!





CJG-Whats-In-Your-Genes

Do You Know What's In Your Genes?

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of genetic disorders . Talk to your relatives for warning signs and assess your risk for hereditary cancers.

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you? Click here to learn more .