Specimen Requirements
Title
Cystic Fibrosis (CF): CFTR Deletion/Duplication Analysis
Specimen Requirement
Collect lavender EDTA, send 7 mL whole blood in the original collection tubes.
Alternate sample: 7 mL whole blood in yellow top ACD.
Alternate collection: Collect and send 4 buccal swabs from the LabCorp buccal swab kits
Methodology
Multiplex ligation-dependent probe amplification (MLPA)
Stability
Maintain specimen at room temp.
Reference Range
By Report*
Turnaround
14-21 days
Clinical Use
Deletion/duplication analysis using multiplex ligation-dependent probe amplification (MLPA) should only be requested following a CFTR sequencing analysis in cases where no mutations have been identified.
Test Code
CFTR