Genetics

Questions discussed in this category

How do you decide which commercially available pharmacogenetic test to use for your patients?

Are there specific testing companies you prefer? How do you weigh the differences between options such as GeneSight and Genomind? In what situations w...

2 Answers available

When do you consider pharmacogenetic testing to assist in the selection of antipsychotic medications?

In light of publication from Gras et al., PMID 40662264

1 Answer available

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