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Prior Authorization Required*
*If prior authorization is not submitted, test may be delayed.
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 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 Set Up
Monday - Friday
Analytic Time

14 days

Soft Order Code
MiChart Code
Cystic Fibrosis Diagnostic Mutation Detection
  • CFDX
  • 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
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 a completed Cystic Fibrosis Requisition available online at 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

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.

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