Ordering RecommendationRecommendations when to order or not order the test. May include related or preferred tests.
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.
Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
Interpretive DataBackground information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
Background Information for Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions: Characteristics: Moderate to profound nonsyndromic hearing loss (NSHL). Incidence: Approximately 1 in 30 individuals with NSHL has a GJB6 deletion; 1 in 100,000 in the general population. Inheritance: Autosomal recessive. Compound heterozygotes for GJB2 and GJB6 mutations are affected. Twenty percent of GJB2 heterozygotes with NSHL have a GJB6 deletion; homozygosity for GJB6 deletions is rare. Cause: GJB6 gene mutations. Mutations Tested: 309kb del(GJB6-D13S1830), previously reported as 342kb, and 232kb del(GJB6-D13S1854). Clinical Sensitivity: Dependent on ethnicity. Clinical Specificity: 99 percent. Methodology: Multiplex PCR using deletion-specific primers, followed by capillary gel electrophoresis. Analytical Sensitivity and Specificity: Greater than 99 percent. Limitations: GJB6 mutations other than the two targeted will not be identified. The etiology of hearing loss due to other genetic or environmental causes will not be determined. Diagnostic errors can occur due to rare sequence variations.
Compliance Category
Laboratory Developed Test (LDT)
NoteAdditional information related to the test.
Hotline History
N/A
CPT CodesThe American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
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AliasesOther names that describe the test. Synonyms.