Cystic Fibrosis (CF): CFTR Deletion/Duplication Analysis

CPT: 81222
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Test Details


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.


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.


Multiplex ligation-dependent probe amplification (MLPA)

Specimen Requirements


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


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


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


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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