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.

Test Limitations

This assay will detect 60 cystic fibrosis transmembrane conductance regulator mutations; this test is not indicated for use in fetal diagnostic or pre-implantation testing.

Test Details

Days Test Performed

Monday - Friday

Analytic Time

14 days

Soft Order Code


MiChart Code

Cystic Fibrosis Diagnostic Mutation Detection



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

+ See More



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.

Specimen Requirements

Offsite 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 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

Additional Information

Cystic Fibrosis is an autosomal recessive disorder. This assay can detect 23 CF mutations recommended by ACMG/ACOG, the 1078delT mutation, and 16 of the world’s most common and North American prevalent mutations, and an additional 21 known mutations. Most of the 1300 mutations discovered in CFTR were found just once or a few cases. Many of these mutations are point mutations or small deletions (1 - 84 base pairs). The loss of phenylalanine at amino acid 508 (delta F508) is the most common three base pair deletion. This mutation accounts for 30 to 88 percent of all CF mutations, depending on the ethnic group (Noone, Hamblett et al. 2001). Frequencies of other mutations also vary by ethnicity. 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.

Billing Information

Fee Codes

CPT Code




Have More Billing Questions?

Explore our helpful billing resources:

Billing Resources

Billing FAQ