The Outcome (PDF) • Referral to genetic services (medical geneticist and/or genetic counselor) for medical evaluation and in-depth discussion of the identified genetic variant • Contact the testing laboratory periodically for reanalysis of the genetic variant to determine whether more is known about its disease association • Identi cation of relevant research studies specific to the [...]

The Outcome (PDF) • Learn more about the condition with which the patient has been diagnosed through Gene Reviews and other resources • Referral to genetic services (medical geneticist and/or genetic counselor) for medical follow-up and discussion of recurrence risks and implications for other family members • Identification of relevant patient support groups and resources specific [...]

The Outcome (PDF) • Learn more about the condition with which the patient has been diagnosed through Gene Reviews and other resources • Referral to genetic services (medical geneticist and/or genetic counselor) for medical follow-up and discussion of recurrence risks and implications for other family members • Identification of relevant patient support groups and resources specific [...]

The Outcome (PDF) Because Mr. Jones’s symptoms are consistent with a possible diagnosis of limb-girdle muscular dystrophy, a LGMD panel was ordered from a commercial laboratory. Two genetic changes were found in the DYSF (dysferlin) gene, which is associated with a group of conditions that cause muscle weakness and atrophy, particularly in the legs and upper [...]