Ask the Nurse: Genetic Testing
Each month, debra of America’s “Ask the Nurse” series will highlight a commonly asked question received by our Nurse Educator, Emily Griffith, BSN, RN. This month’s post focuses on genetic testing. Let’s get started!
Question: I just had a baby and the doctors think he has EB. Some people have suggested a biopsy but some have suggested genetic testing. What do these tests do and what do I learn from them?
Answer: Genetic testing is done by obtaining a blood sample and is now considered the standard for a diagnosis of EB. A small sample of blood is sent to a special lab where they can determine the specific disease-causing variant in the DNA. The results of genetic testing allow families and clinicians to provide appropriate management based on EB subtype. The results for genetic testing can take approximately 4-6 weeks and therefore a biopsy is often done in conjunction with genetic testing because the biopsy can produce results in just a few days. For a biopsy, a small sample of skin tissue is examined in a special lab to determine whether EB-associated proteins are lacking or absent. For those with milder symptoms of EB a biopsy may not be able to tell the difference between normal and EB skin. For this reason, genetic testing is recommended because of its accuracy and its ability to know how the EB variant was inherited which is important for families planning for future children.
To read more commonly asked questions, click here.
If you have an EB care-related question for our EB Nurse Educator, please email: [email protected] or call toll-free at 866-DEBRA-76 (866-332-7276).
*The information provided herein is intended to educate the reader about certain medical conditions and certain possible treatments. It is not a substitute for examination, diagnosis, and medical care provided by a licensed and qualified health professional. If you believe you, your child, or someone you know, suffer from conditions described herein, please see your healthcare provider. Do not attempt to treat yourself, your child, or anyone else without proper medical supervision.