Description of Medical ServiceGenetic testing for hereditary mutations in the CFTR gene involving an individual clinically suspected to have one of the CFTR-related disorders or prenatal diagnosis of pregnancies at high risk of cystic fibrosis.
Description of Medical ConditionMutations in CFTR are associated with a spectrum of clinical phenotypes known collectively as the CFTR-related disorders. These include classical cystic fibrosis, bronchiectasis, chronic pancreatitis and infertility in males associated with congenital absence of the vas deferens, amongst others.
Reason for ApplicationNew MBS item
Medical Service TypeInvestigative
Previous Application Number1216
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