GJB2 sequencing, full gene sequencing

Alphabetical Test listing

GJB2 sequencing, full gene sequencing-994

This test is orderable only by a genetic counselor.

GJB2 sequencing, full gene sequencing
Connexin 26
Hearing Loss (GJB2)

Detects mutations in the coding region and noncoding first exon of the (GJB2) gene, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites.

Confirms a diagnosis of GJB2-related nonsyndromic sensioneural hearing loss; detects carriers.


This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants or variants outside of the regions targeted by this analysis. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

This test is orderable only by a genetic counselor.

EDTA whole blood
7 mL
3 mL

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting


Lavender (EDTA), 4mL x2

Amniotic fluid

Sterile screw cap vial/tube - 15mL (LabCorp)

Two confluent T-25 flasks for fetal testing

Amniotic fluid - 10mL (5 mL minimum)
CVS - 20 mg (10 mg minimum)

Sterile plastic conical tube

Two confluent T-25 flasks for fetal testing


Ambient (preferred)

Refrigerated (OK)

Frozen - NO

  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis (QNS)
  • Improper container
LabCorp (511405): R-NX
21 days

DAN sequencing


An interpretive report will be provided


Medical necessity

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.

  • Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
  • All information requested is required in order for your request to be completed

Molecular Medicare billing request