Test Overview
Test Methodology

The coding exon or a part of the coding exon containing the GJB2 familial mutation is amplified using specific primers and bidirectionally sequenced using a fluorescent method.

Test Usage

GJB2 (connexin 26) targeted sequencing can be performed on a patient with a known familial mutation. If GJB2 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.

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

Test Limitations

This analysis will not identify mutations in the regulatory elements, deep intronic regions or coding regions of GJB2 that are not covered by this targeted test. This assay may not detect large deletion or duplication mutations and balanced translocations involving GJB2 gene.

Test Details
Days Set Up
Monday - Friday
Analytic Time

28 days

Soft Order Code
CX26F
MiChart Code
GJB2 Targeted Sequencing, Familial
Synonyms
  • Connexin 26 Targeted Sequencing
  • Hearing Loss
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.

Alternate Specimen
Cheek swab kit (Oragene OCD-100), follow collection instructions.
Saliva kit (Oragene OGD-510), follow collection instructions.
Normal Volume
5 mL whole blood
Minimum Volume
1 mL whole blood (0.5 mL infants)
Storage Temperature
Room temperature up to 24 hours or 2-8°C up to 5 days for blood
2-36°C for saliva
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 medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

Billing
CPT Code
81253
Fee Code
DA011
Pro Fee CPT
G0452-26
NY State Approved
No