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Test ID CFMP Cystic Fibrosis, CFTR Gene, Variant Panel, Varies

Ordering 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 Mutation, 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.


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.


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

Method Name

Targeted Genotyping Array

Reporting Name

Cystic Fibrosis (CF) Mutation Panel

Specimen Type


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday, Wednesday, Friday

Report Available

7 to 21 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information



81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CFMP Cystic Fibrosis (CF) Mutation Panel 38404-0


Result ID Test Result Name Result LOINC Value
606027 Result Summary 50397-9
606028 Result 82939-0
606029 Interpretation 69047-9
606030 Additional Information 48767-8
606031 Method 85069-3
606032 Specimen 31208-2
606033 Source 31208-2
606034 Released By 18771-6

Testing Algorithm

See Cystic Fibrosis Molecular Diagnostic Testing Algorithm for additional information.