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2001956
Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions
GJB6 DEL
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
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
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
