Days Set Up
Monday - Friday
Analytic Time

14 - 21 days

MiChart Code
CFTR Del/Dup Analysis
Soft Order Code
CFTD

Test Updated:

Synonyms

CFTDS
CFTR Del/Dup Analysis Shadow
CFTD
CFTR Deletion/Duplication Aly
CFTR Gene Deletion and Duplication Analysis
Cystic Fibrosis Deletion
Cystic Fibrosis Duplication

Looking to order a test?

We’ve provided helpful links to make ordering easy.

Find a Requisition

All specimens should be accompanied by a requisition.

Submitting Specimens

Learn about how to properly label and where to ship specimens.

Order Kits and Supplies

MLabs provides all the supplies necessary for the collection of specimens.

Test FAQ

Visit our provider FAQ and learn about common questions to ordering tests.

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.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Onsite

Collect specimen in a lavender top tube. Send intact specimen to the lab within 24 hours. 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 by contacting the MMGL Molecular Genetics Laboratory at 615-2429 during business hours Monday - Friday or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….

Collection Offsite

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….

Lavender Top Tube
Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood

Billing Information

CPT Code
81222
Pro Fee Code
 
LOINC
 

Have More Questions?

Explore our helpful billing resources:

Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.