Cystic Fibrosis, CFTR Gene Variant Panel

Alphabetical Test listing

Cystic Fibrosis, CFTR Gene Variant Panel-994

Test name:

Test number:

994

Excellian order number:

LAB994

Abbreviation:

MSO

Alternate names:

Cystic Fibrosis, CFTR Gene Variant Panel
106-mutation panel

Tests included:

Targeted testing to evaluate over 500 genetic variants including 23 pathogenic variants recommended by the American College of Medical Genetics and Genomics.

Useful for:

Confirmation of a clinical diagnosis of cystic fibrosis
Reproductive risk refinement via carrier screening for individuals in the general population
Reproductive risk refinement via carrier screening for individuals with a family history when familial variants are not available
Identification of patients who may respond to cystic fibrosis transmembrane conductance regulator (CFTR) potentiator therapy

Specimen type:

EDTA whole blood

Collection container:

Lavender (EDTA), 4mL

Volume:

3 mL

Minimum volume:

1 mL

Collection instructions:

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting

Processing instructions:

Send whole blood specimen in original tube.
Do NOT aliquot.
Specimen must be received at performing lab within 96 hours of collection.

Alternate specimen type:

ACD whole blood

Alternate collection container:

Yellow ACD (A or B)

Transport and stability:

Ambient (preferred) - 96 hours

Performing lab:

Mayo Clinic Laboratories (CFMP): R-NX

Days set up:

Th, Su

TAT:

20-42 days

Method:

Targeted genotyping array

Reference ranges:

An interpretive report will be provided

Preauthorization:

This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.

CPT codes:

81220
81222

Date created:

08/13/2022

Review date:

08/23/2022