Cystic Fibrosis Genetic Testing
Test Information/Clinical Significance
The SCI tests for 31 of the most frequent disease causing mutations for Cystic Fibrosis and also performs limited testing for the detection of the Delta F508 mutation.
The test is useful for the confirmation of Cystic Fibrosis as well as for establishing carrier status.
Assay Method
Applied Biosystems CF oligonucleotide ligation assay
Genetic Counselling
Genetic counselling is an essential aspect of testing for all genetic disorders and should be offered to patients prior to referral for testing and for discussion of test results.
Specimen
5 mL EDTA (dedicated tube required)
Results Availability
Test assayed weekly