20th February 2024

A couple has attended the genetic clinic after being referred for prenatal genetic testing

A couple has attended the genetic clinic after being referred for prenatal genetic testing. The male partner is a known beta thalassemia trait carrier, but the female partner has no medical history or family history of haemoglobinopathies. PCR testing on the male partner’s blood sample has not revealed any common mutations in the genes encoding for haemoglobin. Further tests need to be performed to rule out rarer variants.

Which of the following genetic tests is most suitable for this scenario?

Select the SINGLE most appropriate option from the list below. Select ONE option only.