Cystic Fibrosis, CFTR Gene, Variant Panel, Varies

Casandra

Casandra Test Code MC14950Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID CFMPCPT Codes 81220, 81222

Cystic Fibrosis, CFTR Gene, Variant Panel, Varies

Clinical Use

Use

This test is essential for confirming a clinical diagnosis of cystic fibrosis and is useful for reproductive risk refinement through carrier screening in the general population and for individuals with a family history when familial variants are not accessible. Additionally, it identifies patients who may benefit from CFTR potentiator therapy, addressing genetic variants related to cystic fibrosis. This test includes targeted testing to evaluate over 500 genetic variants, including 23 disease-causing variants recommended by the ACMG, making it a comprehensive tool for diagnosing and managing CF.

Special Instructions

If there is a family history, it's advised to provide the known family variant for accurate result interpretation. Specimens should ideally be received within 4 days of collection for optimum DNA yield. Informed consent is required for New York clients, and forms are available online.

Limitations

While this assay is designed to detect more than 500 CF-linked genetic variants, it will not detect all possible CFTR-related disorder variants. A negative result doesn't completely rule out carrier status due to possible variants not included in this panel or false negatives. Variant interpretation relies on ACMG guidelines, but unknown significance variants could be identified, prompting further consultation.

Test Details

New York Approved

Methodology

Microarray

Biomarkers

The Targeted Genotyping Array detects over 500 genetic variants, including 23 disease-causing variants recommended by ACMG. This test is crucial for CF carrier screening or initial diagnostic evaluation.

Targeted Genotyping Array