Test Overview
Test Methodology

MLPA probes hybridize to target regions of the CFTR gene and are amplified by multiplex PCR. The amplification products are analyzed by capillary electrophoresis and copy numbers for these CFTR target regions are generated.

Test Usage

This test is used to detect the presence of CFTR (OMIM:602421) deletions and duplications. CFTR gene deletion and duplication analysis can be performed on patients with only one or no CFTR mutations detected by sequence analysis but have a clinical presentation consistent with CFTR-related disorders or on relatives of a patient with a known CFTR deletion/duplication mutation. Currently the deletion and duplication detections rates in different population groups are not known.

Reference Range *

Interpretive report provided.

Test Limitations

This assay will not detect point mutations or frame-shift mutations in the CFTR gene.

Test Details
Days Set Up
Monday - Friday
Analytic Time

14 - 21 days

Soft Order Code
MiChart Code
CFTR Del/Dup Analysis
  • CFTR Del/Dup Analysis Shadow
  • CFTD
  • CFTR Deletion/Duplication Aly
  • CFTR Gene Deletion and Duplication Analysis
  • Cystic Fibrosis Deletion
  • Cystic Fibrosis Duplication
MMGL Molecular Genetics
Specimen Requirements
Collection Instructions

Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….

Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood
Additional Information

CFTR gene deletion and duplication testing is also a component (Tier 2) of the CFTR Gene Panel test. By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

CPT Code
Fee Code
Pro Fee CPT
NY State Approved