Home
HelpTEST ID CFMP Cystic Fibrosis, CFTR Gene, Variant Panel, Varies
Reporting Name
Cystic Fibrosis (CF) Mutation PanelSpecimen Type
VariesOrdering Guidance
If testing is negative, and a diagnosis of cystic fibrosis is still suspected, consider CFTRZ / CFTR Gene, Full Gene Analysis, Varies.
Targeted testing for familial variants (also called site-specific or known mutation testing) is available for all genes on this panel under FMTT / Familial Variant, Targeted Testing, Varies. Call 800-533-1710 to obtain more information about this testing option.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
If there is a family history of cystic fibrosis, the known variant in the family should be supplied for best interpretation of results.
Specimen Required
Specimen Type: Whole blood
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Special Instructions
Testing Algorithm
See Cystic Fibrosis Molecular Diagnostic Testing Algorithm for additional information.
Method Name
Targeted Genotyping Array
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday, Wednesday, Friday
Report Available
7 to 21 daysSpecimen Retention Time
Whole Blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81220
81222
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521)
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
Genetics Test Information
This test includes targeted testing to evaluate over 500 genetic variants including 23 disease-causing variants recommended by the American College of Medical Genetics and Genomics.
For details regarding the specific variants identified by this test see Targeted Variants Interrogated by Cystic Fibrosis Variant Panel.
Highlights
A targeted genotyping array is utilized to detect more than 500 genetic targets associated with cystic fibrosis or cystic fibrosis-related disorder for the purpose of carrier screening or first-tier diagnostic testing.