Cystic Fibrosis (CF): CFTR Deletion/Duplication Analysis

CPT: 81222
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Test Details

Use

Deletion/duplication analysis using multiplex ligation-dependent probe amplification (MLPA) should be applied following CFTR sequencing analysis in cases where 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

Multiplex ligation-dependent probe amplification (MLPA)

Specimen Requirements

Specimen

Blood, amniotic fluid, chorionic villus sample (CVS), cultured amniocytes

Volume

7 mL whole blood, 10 mL amniotic fluid, 10 mg CVS

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube, or two confluent T-25 flasks for fetal testing.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252900 CFTR Deletion/Duplication 69480-2 252901 CFTR Deletion/Duplication 69480-2

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