What is Pre-Conception Carrier Screening/Genetic Testing?
Pre-conception carrier screening is a genetic test that can determine whether or not you carry a gene for certain genetic disorders. In the case of GNE Myopathy, genetic screening can tell you if you have a mutation in the GNE gene, which can cause the disease.
How is Pre-Conception Carrier Screening Done?
DNA analysis can be done using blood or saliva.
Who Should be Screened for Genetic Diseases?
The simple answer is that everyone who is related to a carrier or a person affected by genetic disease and everyone who plans to have a family should be screened. Although the chances of having a child with a genetic abnormality is usually small, persons of certain ethnic and geographically defined groups can have higher than average chances of passing on specific genetic disease. GNE Myopathy (HIBM) has been disproportionately found to effect people of European, Middle Eastern, and Asian descent.
Because GNE Myopathy is a recessive disease, at least one person from every couple should be screened. If he or she tests positive, the other person should be screened. Some couples decide to be screened at the same time in order to avoid waiting between results.
When should I get Screened for Genetic Diseases?
The best time to be tested for genetic diseases is before you plan to get pregnant.
What does it mean to be a carrier?
A carrier is a person who has a mutation in one of two copies of a particular gene. Because carriers have a second, working copy of this gene, they will not develop symptoms of the disease, but they can pass the mutated gene to their children.
Giving birth to a child with GNE Myopathy is only possible when BOTH parents are carriers of the mutated gene.
Where/How can I get Pre-Conception Carrier Screening Done?
There are many places to be screened – your physician’s office, a hospital, a medical genetics program. Be sure to make your practitioner aware that you are seeking screening specifically for GNE Myopathy. Regardless, it is important that results of your tests be discussed with a genetic counselor.
For assistance finding a genetic counselor near you, visit The National Society of Genetic Counselors or contact us for a referral.
There are also at-home options for screening:
Jscreen is a national genetic screening program that provides comprehensive testing that is done at home. All participants register for a kit online and pay a set fee during their registration. Once their registrations have been reviewed by a genetic counselor, the participant receives a saliva kit in the mail and sends their sample directly to the lab. Results are reviewed and disclosed by a genetic counselor by phone or video conference.