Days Set Up
Monday - Friday
Analytic Time

14 days

MiChart Code
Cystic Fibrosis Diagnostic Mutation Detection
Soft Order Code
CFDXL

Test Updated:

Synonyms

CFDX
Cystic Fibrosis Diagnostic
CFDXLS
CF Diagnostic Mutation Shadow
CFDXL
CF diagnostic Mutation
CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)
CF Diagnostic Mutation Detection
CFTR 60 Variant Targeted Analysis

Looking to order a test?

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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

Multiplex PCR

Test Usage

Analysis for the presence of 60 cystic fibrosis mutations in newborns and children to confirm a clinical diagnosis of cystic fibrosis. See http://www.pathology.med.umich.edu/handbook/Tables/CFDXLS_Mutations.pdf for listing of 60 CFTR mutations and variants.

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 a completed Cystic Fibrosis Requisition available online at http://www.mlabs.umich.edu/files/pdfs/REFR_Cystic_Fibrosis_Requisition… with the specimen. 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
81220
Pro Fee Code
 
LOINC
21656-4

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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.