Test Overview
Test Methodology

Multiplex Polymerase Chain Reaction (PCR)

Test Usage

This targeted 60-variant CFTR gene assay includes the American College of Medical Genetics and Genomics (ACMG) core panel of 23 variants (2004 version) and an additional 37 disease-causing variants. Intended use is for pan-ethnic carrier screening in individuals with no family history of cystic fibrosis to refine their carrier risk. See http://www.pathology.med.umich.edu/handbook/Tables/CFDXLS_Mutations.pdf for complete listing of the tested variants.

Reference Range *

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

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

Test Limitations

This test will not detect variants other than the targeted 60 pathogenic variants, thus detection rate is reduced compared to CFTR gene sequencing (Test Code: CFTRS). See below for expected detection rate, carrier rate, and residual carrier risk by ethnicity. The accuracy of reported probabilities are contingent upon the accuracy of the history provided. This test is intended only for carrier screening, not for the diagnosis of cystic fibrosis.

Test Details
Days Set Up
Varies. Batch setup at least once every 2 weeks
Analytic Time

14 days

Soft Order Code
CFCAR
MiChart Code
Cystic Fibrosis Carrier Screening
Laboratory
MMGL
Section
MMGL Molecular Genetics
Specimen Requirements
Collection Instructions

Collect blood specimen in a EDTA lavender top tube. Send it within 24 hours if stored at room temperature or within 5 days if stored refrigerated.

Fill out a MLabs Molecular test requisition (or place an e-order if applicable):
https://mlabs.umich.edu/media/166
Fill out a Clinical History Form for Insurance Prior Authorization (include all required documentation indicated at the bottom of this form):
https://mlabs.umich.edu/sites/default/files/2020-08/file/mlab11618clini…
Fill out a UMHS Request and Consent for Genetic Testing form:
https://mlabs.umich.edu/sites/default/files/2023-04/file/germline-conse…
Michigan State law requires the ordering provider to obtaining informed consent from the patient prior to prognostic or predictive genetic testing. Contact a MLabs Client Services Center at 800-862-7284 to request paper copies or to setup a client account.

Contraindications
The current literature indicates that genetic tests for an inherited disease should only be conducted once per lifetime.
Normal Volume
5 mL whole blood
Minimum Volume
1 mL whole blood
Storage Temperature
Room temperature up to 24 hours or 2-8°C up to 5 days for blood
Rejection Criteria
Hemolyzed blood sample. Fresh tissue (POC) or paraffin embedded specimens are not acceptable.
Additional Information

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 pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

Billing
CPT Code
81220
Fee Code
DA174
Pro Fee CPT
G0452-26
LOINC
21654-9