GJB2 sequencing, full gene sequencing-994

This test is orderable only by a genetic counselor.

Test info

  
GJB2 sequencing, full gene sequencing
  
994
  
LAB994
  
MSO
  
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.

Specimen

  
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
CVS
  

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

  

Molecular Medicare billing request

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.

  

Ambient (preferred)

Refrigerated (OK)

Frozen - NO

  
  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis (QNS)
  • Improper container

Performance

  
LabCorp (511405): R-NX
  
Varies
  
21 days
  

DAN sequencing

Clinical and Interpretive info

  

An interpretive report will be provided

Billing

  
81252
  
Yes
  

Medical necessity

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.

Molecular Medicare billing request

Tracking

  
04/26/2022
  
05/15/2024
  
04/26/2022