Genetic Testing & Counseling Genetic testing can be used to confirm or reject a suspected diagnosis, to test for a disease prior to the appearance of symptoms, or plan for the future. The decision to pursue genetic testing can be overwhelming but there are resources which can assist you in making the best decision. A meeting with a genetic counselor can aid you in your decision by bridging the gap between complex scientific information and personal concerns surrounding the test. At the initial appointment, the genetic counselor will ask you to provide your personal and family medical history, to develop an understanding of your genetic risk. Prior to the first appointment, it is useful to collect as much information regarding your family history of muscular dystrophy, including medical records or previous genetic test results from affected family members. During the first appointment, the genetic counselor will provide you with information regarding the inheritance pattern for the disorder, the genetic testing process and the possible test outcomes. Recommendations for additional services such as medical treatment, counseling or support groups can also be provided. A genetic counselor or physician will not decide if you should pursue genetic testing, they will only provide you with the knowledge to make an informed decision. Genetic consultations can be obtained through hospitals, clinics and some genetic testing labs. There are counselors who specialize in genetic counseling for individuals and families with muscular dystrophies. Genetic Tests Genetic tests are ordered by a primary care physician, specialist or genetic counselor. A blood sample will be taken and sent to a clinical laboratory which specializes in genetic testing for patient medical care. The results take approximately 2-6 weeks to arrive and will be sent directly to the healthcare provider that ordered the test. A genetic counselor will schedule an additional appointment to go over your test results and offer suggestions for follow up visits and additional treatment if necessary. Genetic tests can be performed in research laboratories, although these results are often not shared with the patient and are used to learn more about a disease or develop new clinical tests. Additional Testing Options As we develop an increased understanding of the genetic mechanisms and causes of muscular dystrophy, stored DNA samples can be a valuable resource to you and your family. DNA banking is the process in which DNA is extracted from white blood cells and stored indefinitely by storing the DNA at extremely low temperature. DNA can also be extracted from the cells that line the cheeks (buccal cells) which are collected using a cotton swab. The DNA is stored at a secure and environmentally controlled facility that the patient or family has chosen. The can be removed from the facility at any point by the individual who “owns” the DNA. DNA banking is an option often utilized by individuals who may not want to undergo genetic testing, but would like to have a DNA sample available for their children if needed in the future. A DNA sample from an affected individual can increase the accuracy of DNA testing in other family members. The DNA will also be available if there is a change in the diagnostic criteria or newer tests become available. Additionally, previously collected DNA is more convenient for future DNA testing then having to extract a new sample.