This case involves a parent who underwent testing for the genetic markers of a particular form of muscular dystrophy. The mother originally requested the testing after having a son who was afflicted with the disease. After submitting to the test, the woman was informed that she was not a carrier of the disease by a genetic counselor over the phone. On this information, the plaintiff and her husband had a second child, who was also afflicted by the same form of muscular dystrophy.
I do not counsel patients with this disease specifically because they receive counseling in a specific clinic. However, I do counsel individuals with other X-linked recessive diseases. Patients are given testing results over the phone followed by a letter summarizing the information provided, along with a copy of any test results. I teach medical students and genetic counseling students about the process of result disclosure, documentation, and the unique aspects of X-linked diseases.
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