Test Overview
Test Methodology

The coding exon or a part of the coding exon containing the CFTR familial mutation is amplified using specific primers and bidirectionally sequenced using a fluorescent method.

Test Usage

CFTR targeted sequencing can be performed on a patient with a known familial mutation. If CFTR sequencing that detected the familial mutation was not performed at MMGL Molecular Genetics Lab, then please send a copy of the clinical laboratory report that documents the familial mutation.

Reference Range *

Interpretive report provided.

Test Limitations

This analysis will not identify mutations in the regulatory elements, deep intronic regions or coding regions of CFTR that are not covered by this targeted test. This assay may not detect large deletion or duplication mutations and balanced translocations involving CFTR gene.

Test Details
Days Set Up
Monday - Friday
Analytic Time

28 days

Soft Order Code
CFTRF
MiChart Code
CFTR Targeted Sequencing, Familial
Synonyms
  • CFTRF
  • Cystic Fibrosis Targeted Sequencing
  • CFTR Targeted Mutation Analysis
  • CFTR Gene Sequencing Familial
Laboratory
MMGL
Section
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. If the previous testing of the proband was not performed by the MMGL laboratory, please also provide a copy of the clinical molecular genetics report issued by the CLIA-certified testing laboratory for the proband, patient or family member in which the mutation was previously detected. Obtaining informed consent from the patient (or legally authorized representative) 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

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
CPT Code
81221
Fee Code
10359
Pro Fee CPT
G0452-26
NY State Approved
No