Cystic Fibrosis, CFTR Gene Variant Panel-994

Test info

  
Cystic Fibrosis, CFTR Gene Variant Panel
  
994
  
LAB994
  
MSO
  
Cystic Fibrosis, CFTR Gene Variant Panel
106-mutation panel
  
Targeted testing to evaluate over 500 genetic variants including 23 pathogenic variants recommended by the American College of Medical Genetics and Genomics.
  
  • 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

  
EDTA whole blood
  
  
3 mL
  
1 mL
  

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

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

Yellow ACD (A or B)

    

  

Ambient (preferred) - 96 hours

Performance

  
Mayo Clinic Laboratories (CFMP): R-NX
  
Th, Su
  
20-42 days
  

Targeted genotyping array

Clinical and Interpretive info

  

An interpretive report will be provided

Billing

  
This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
  
81220
81222

Tracking

  
08/13/2022
  
08/23/2022