Genetics

Questions discussed in this category

Do you recommend genetic screening for FMF in asymptomatic first-degree relatives with a strong family history (multiple family members, severe/refractory disease)?

1 Answer available

Does cytotoxic chemotherapy affect the yield of germline testing?

Should testing for germline mutations -- eg. saliva sample -- occur before or after the completion of chemotherapy - or the timing does not matter?&nb...

1 Answer available

How do you perform fertility counseling for a patient with a duplication of one of the alpha genes and their partner who has a beta chain point mutation?

That is, extra copy of one of the alpha genes resulting in an atypical alpha thalassemia for the patient, and beta thalassemia heterozygous carrier fo...

1 Answer available

Do you refer all patients with a Beighton score over 5 to genetics for further assessment?

2 Answers available

What aspects on history and physical exam could help differentiate genetic muscular dystrophy from immune-mediated myopathy?

1 Answer available