Who Should Get Tested?
Adults thinking of starting or expanding their family should consider GeneAware as an important step of their family planning process. Knowing your carrier status may help you consider all available options for family planning. If there is a family history for a disorder included in the GeneAware screen, please discuss with your physician or genetic counselor to determine if GeneAware is an appropriate test for you.
Why Is Carrier Screening Important?
Carrier screening can help determine your risk of having a child with various genetic diseases. A carrier is an individual who has one disease-causing pathogenic variant in a gene that is inherited in an autosomal recessive or X-linked recessive pattern. Most carriers do not have symptoms of the disease associated with pathogenic variants in this gene. However, a carrier does have an increased risk to have a child affected with the disease.
Everyone is a carrier for one or several diseases, but many people aren’t aware of their carrier status because they do not have symptoms or a family history of the disease.
For autosomal recessive disorders, couples are at increased risk for having an affected child if they are both carriers for the same disease. For X-linked disorders, couples are at risk for having an affected male child if the mother is a carrier.
Negative carrier screening results do not completely rule out the risk for a couple to have an affected child, but do indicate a significantly reduced risk.
How Do I Order GeneAware Testing?
Providers: Please see the provider's page to request testing kits and to learn more about how to order GeneAware testing for your patients.
Patients: GeneAware must be ordered by a health care provider. If you are interested in getting tested, bring
this letter to your doctor during your next visit.
It will give them an overview of the test and how to order it for you. GeneAware testing can be completed with a simple blood sample. Please see the
patient page for more details about what to expect from GeneAware testing.
After Testing Is Complete
GeneAware results will be available within two weeks after a sample is received in our lab through our online reporting system.
Our knowledgeable team of certified genetic counselors is available to discuss results with physicians. Patients also can schedule a complimentary phone consult with our counselors if they have additional questions about their results.
See the patient page for more details.
What Is The Cost of GeneAware?
Many insurance companies and plans cover carrier testing. However, the exact cost to a patient will vary for each individual as all insurance plans differ. If you would like to discuss the price of the testing, please contact our billing department at 713-798-3566 or medgenbilling@bcm.edu.