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Test Code 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 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.


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

Method Name

Targeted Genotyping Array

Reporting Name

Cystic Fibrosis (CF) Mutation Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Interpretation

All reported alterations are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424. doi: 10.1038/gim.2015.30

2. Quint A, Lerer I, Sagi M, Abeliovich D: Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. Am J Med Genet A. 2005 Jul 30;136(3):246-248

3. Bobadilla JL, Macek M Jr, Fine JP, Farrell PM: Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat. 2002 Jun;19(6):575-606

4. Sugarman EA, Rohlfs EM, Silverman LM, Alitto BA: CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med. 2004 Sep-Oct;6(5):392-399

5. Watson MS, Cutting GR, Desnick RJ, et al: Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004 Sep-Oct;6(5):387-391

6. Heim RA, Sugarman EA, Allitto BA: Improved detection of cystic fibrosis mutations in the heterozygous U.S. population using an expanded, pan-ethnic mutation panel. Genet Med. 2001 May-Jun;3(3):168-176

7. De Boeck K, Munck A, Walker S, et al: Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation. J Cyst Fibros. 2014 Dec;13(6):674-680

8. Carrier Testing for Cystic Fibrosis. Cystic Fibrosis Foundation; Accessed May 24, 2021. Available at www.cff.org/What-is-CF/Testing/Carrier-Testing-for-Cystic-Fibrosis/

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. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81220

81222

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.