Gaucher (pronounced go-SHAY) disease is a genetic disorder that can have serious consequences for the brain, bones, spleen and liver. The disease is quite rare, but the carrier gene is not. 1 in 10 Ashkenazi Jews is a carrier of the gene that causes Gaucher disease.
This is why genetic screening is so critical. It’s important to consider the possibility of passing the gene on to your children. Genetic screening is an easy way to find out your personal genetic information and understand any risks associated with carrying a genetic disease.
From now through December 31, the National Gaucher Foundation (NGF) and JScreen are offering genetic screening for Gaucher and more than 100 additional genetic diseases. The screening is fully confidential and will not cost you anything. If it turns out you’re a carrier, you’ll be able to get genetic counseling too.
Here’s how it works:
1) Request a kit. Click here to go to the NGF website, where you can request your JScreen kit. (You must be between the ages of 18 and 45.)
2) Collect your sample. JScreen’s “spit kit” provides a tube for collecting a saliva sample in the privacy of your own home. The whole process takes two to five minutes.
3) Send it in. The kit comes with a prepaid FedEx envelope, so sending it to the lab is easy.
4) Get the results. JScreen’s lab at Emory University will analyze your DNA within four weeks of receiving your kit. A licensed genetic counselor will then follow up with you regarding your results, and be able to provide confidential and personalized guidance.
Even if you’ve had genetic screening before, you should do it again: “We recommend that people get screening updates because with each subsequent panel screening changes,” says Karen Grinzaid, a genetic counselor and the director of JScreen.
If you have more questions, visit gaucherdisease.org/screening or call 800-925-8885.
This story "Get the Facts About Gaucher Disease with No-Cost Genetic Screening (Sponsored)" was written by National Gaucher Association.