In This Section      

Cystic Fibrosis Intron 8 T and G tract Typing

CFTR (selected regions)

Test Information

Test Method

Direct analysis of the CFTR intron 8 for T and TG tract length

Clinical Sensitivity

In a study of males with a CF causing mutation and 5T, the sensitivity and specificity of this test were determined to be 91% and 78% respectively for non-classic CF or isolated CBAVD.

This test is designed to assess whether a patient is at an increased or decreased risk for his/her 5T allele to be penetrant. It is not able to assign a numerical risk. 

Sample Requirements

3-6ml whole blood in EDTA (purple topped) tubes. (see Pediatric or Adult blood sample algorithms for additional information)

We prefer whole blood for all tests.

Turn Around Time

2 to 3 weeks

Fee and CPT Codes

$302 per individual

CPT Code: 81224

Special Considerations

Phenotypic information is extremely helpful in interpreting these test results.

INFORMED CONSENT from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.