Cystic Fibrosis (CF): CFTR (Full Gene Sequencing) With Reflex to Deletion/Duplication Analysis

CPT: 81223
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Test Details

Test Includes

A negative sequencing result will reflex to CFTR deletion/duplication analysis. If reflex testing is performed, additional CPT code(s)/charges will apply.

Use

Confirm a clinical diagnosis of CF and predict risk of CF in blood relatives. Deletion/duplication analysis using MLPA should be applied following CFTR sequencing analysis in cases in which no mutations have been identified.

Limitations

The MLPA platform detects full CFTR gene deletions and most multiple- and single-exon deletions and duplications but not balanced translocations or rearrangements that do not alter the copy number of the probe target sequences.

Methodology

DNA sequencing; multiplex ligation-dependent probe amplification (MLPA) if deletion/duplication analysis is performed

Additional Information

Cystic fibrosis (CF) is a relatively common, recessively inherited multisystem disease, affecting the respiratory, digestive, and male reproductive systems. Disease severity can range from recurrent sinusitis and bronchitis with onset in young adulthood (nonclassic CF) or, in males, from infertility without any pulmonary manifestations (congenital absence of the vas deferens) to severe lung, pancreatic, and liver disease with onset in infancy or childhood (classic CF). Genetic testing can confirm a diagnosis based on sweat testing, transepithelial nasal potential difference, or immunoreactive trypsinogen assay and identify the exact CFTR mutations underlying disease in the individual patient. Genetic testing for presence of these familial mutations can then identify disease carriers in the patient's blood relatives, allowing reproductive counseling. In males with CAVD or individuals with nonclassic CF, analysis of the 5T/TG tract, which is known to modify severity of certain "mild" CFTR mutations, can help to predict the risk of CF in blood relatives.

Specimen Requirements

Specimen

Whole blood

Volume

7 mL

Minimum Volume

3 mL

Container

Lavender-top (EDTA) tube

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Container broken or leaking; wrong anticoagulant

Clinical Information

References

Moskowitz SM, Chmiel JF, Sternen DL, et al. Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genet Med. 2008 Dec; 10(12):851-868.19092437
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):387-391.15371902

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
253095 CFTR Sequencing Rfx Del/Dup 252261 Routing 38404-0
253095 CFTR Sequencing Rfx Del/Dup 252227 Reflex N/A
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252900 CFTR Deletion/Duplication 252901 CFTR Deletion/Duplication 69480-2

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