Planning a family? If you or you spouse has any family history of genetic disorders such as cystic fibrosis, Fragile X Syndrome, spinal muscular atrophy, or any others, you may want to consider genetic testing for you and also your spouse (if he also has family history of genetic disorders).
We are now offering genetic testing using InheriGen® through the premier women’s health laboratory, GenPath, a company dedicated to promoting women’s health throughout every stage of a woman’s life. They are currently our provider of pap smear tests, but we will soon be offering their other valuable tests to our services, including prenatal, and thrombophilia testing.
InheriGen® is a comprehensive genetic carrier screen that tests for over 160 inherited diseases and more than 500 mutations from a single blood sample. InheriGen is a pan-ethnic test, which means that the diseases tested can occur in many different populations including Ashkenazi Jewish, French Canadian, Asian, European, African American, Middle Eastern and more. InheriGen helps to identify carriers for disorders that are typically childhood onset with severe symptoms, such as immunodeficiencies, and several metabolic diseases, including Tay Sachs disease, glycogen storage diseases and fatty acid oxidation disorders. InheriGen Plus includes all InheriGen diseases plus Cystic Fibrosis, Spinal Muscular Atrophy (SMA) and Fragile X Syndrome.
Although there is no cure for the disorders on the panel, knowing about one’s risk to have a child with an inherited condition can be useful for patients who are pregnant or for couples planning a pregnancy. For some disorders, treatment may be implemented in order to significantly reduce or eliminate the effects of the condition.
InheriGen is suitable for all patients who are pregnant and those who are considering getting pregnant. Testing is also appropriate for those who are at an increased risk for offspring with an autosomal recessive condition, such as couples who are either related to each other by blood (i.e. consanguineous) or who are of an ethnicity that is known to have a higher than average incidence for one or more diseases on the InheriGen panel.
Couples who undergo carrier testing prior to conception may do so in order to better understand their risks and available options prior to a future pregnancy. If you and your partner are carriers for the same autosomal recessive disorder or if a female is a carrier for an X-linked disorder, you may wish to explore options including preimplantation genetic diagnosis (PGD), which can test embryos for a particular disease prior to implantation; prenatal diagnosis via chorionic villus sampling (CVS) or amniocentesis; pursuing egg/sperm donation that have been tested for the disease; or adoption. Your physician or genetic counselor can review these options with you in greater detail.
Some disorders may have symptoms that can be reduced with proper medical treatment. Knowing about the condition while you are pregnant can help you to prepare appropriately for the child’s needs. For other non-treatable disorders, you will have the opportunity to discuss the spectrum of disease manifestations in children with the disease as well as available pregnancy testing options with your physician or genetic counselor.
If you are interested in InheriGen testing or learning more about carrier screening, call us to make an appointment or book your appointment.
Visit GenPath’s website for more information and videos on InheriGen carrier screening tests.
[Update: We recently added Myriad Genetic’s BRACAnalysis™ testing for the BRCA1 and BRCA2 mutation for breast cancer, and Colaris™ testing for uterine (endometrial) cancer. See this blog entry for more information]