Ordering Recommendation

Diagnostic test for individuals with nonsyndromic hearing loss and 1 identified GJB2 variant. Carrier screening if family history of GJB6 deletion or for reproductive partner of individual with GJB6 or GJB2 variants.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated. Also acceptable: Room temperature

Unacceptable Conditions
Remarks
Stability

Ambient: 1 week; Refrigerated: 1 month; Frozen: Unacceptable

Methodology

Polymerase Chain Reaction (PCR)/Capillary Electrophoresis

Performed

Varies

Reported

7-10 days

Reference Interval

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81254

Components

Component Test Code* Component Chart Name LOINC
2001957 Connexin 30 GJB6 Deletion 309 34504-1
2001958 GJB6 DEL Specimen Type 31208-2
2001959 Connexin 30 Interpretation 50398-7
2002107 Connexin 30 GJB6 Deletion 232 41100-9
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Connexin 30 mutation assay
  • GJB6
  • GJB6 deletions assay
Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions