Ordering RecommendationRecommendations when to order or not order the test. May include related or preferred tests.
Diagnostic testing or carrier screening for GJB2-related nonsyndromic hearing loss (NHSL). May be used as first-tier genetic test for individuals with NSHL.
MnemonicUnique test identifier.
CX26SEQ
MethodologyProcess(es) used to perform the test.
Polymerase Chain Reaction/Sequencing
PerformedDays of the week the test is performed.
Varies
ReportedExpected turnaround time for a result, beginning when ARUP has received the specimen.
14-21 days
New York DOH Approval StatusIndicates test has been approved by the New York State Department of Health.
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
By report
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: Connexin 26 (GJB2) , Sequencing Characteristics: Nonsyndromic hearing loss; recessive mutations typically cause congenital deafness while dominant mutations have variable expressivity. Incidence: Approximately 1:6500. Inheritance: Autosomal recessive or dominant depending on specific GJB2 mutation. Cause:GJB2 gene mutations. Clinical Sensitivity: 95 percent of GJB2 mutations. Methodology: Bidirectional sequencing of the entire coding region, exon/intron boundaries, and 5'-UTR of the GJB2 gene sequenced. Analytical Sensitivity and Specificity: Greater than 99 percent. Limitations: Diagnostic errors can occur due to rare sequence variations. Large GJB2 gene deletions or deep intronic mutations will not be identified; hearing loss caused by other genetic or environmental causes will not be detected.
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.
* 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.
AliasesOther names that describe the test. Synonyms.
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