Days Set Up
Monday - Friday
Analytic Time

56 days

MiChart Code
CFTR Panel: Reflex to All Tiers
Soft Order Code
CFT1S

Test Updated:

Synonyms

CFTP
CFTR Panel
CFTPS
CFTR Panel Shadow
Cystic Fibrosis Gene Panel
Congenital Absence of the Vas Deferens (CAVD)
CFTR Gene Sequencing
CFTR Deletion
CFTR Duplication
CFTR Sequencing

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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

For Tier 1, the coding exons and associated, adjacent consensus splice sites of the CFTR gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method. For Tier 2, MLPA probes hybridize to target all coding-exons of the CFTR gene and are amplified by multiplex PCR. The amplification products are analyzed by capillary electrophoresis and copy numbers for these CFTR targeted regions are generated.

Test Usage

The CFTR Panel is used to detect the presence of CFTR mutations in patients with CFTR-related disorders affecting the respiratory tract, pancreas, sweat glands, intestine, male genital tract, and liver, and for the confirmation of a diagnosis of Cystic Fibrosis in patients who had no mutations detected in a targeted mutation analysis for the 23 CF mutations recommended by ACMG/ACOG but have a clinical presentation consistent with Cystic Fibrosis. CFTR gene Panel testing consists of CFTR full gene sequencing (Tier 1) and if only one or no CFTR mutation is detected, then CFTR gene deletion and duplication analysis (Tier 2) is performed. This assay is also used to confirm a diagnosis of CFTR-related Congenital Absence of the Vas Deferens (CAVD).

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

Please note that ordering the Cystic Fibrosis Diagnostic Mutation Detection assay is recommended prior to the CFTR Gene Sequencing assay, especially for patients of Western European ancestry. 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
Tier 1: 81223; Tier 2: 81222
Pro Fee Code
 
LOINC
 

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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.