Reference Interval:
By report
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| Interpretive Data: |
Background Information for 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% of GJB2 mutations.
Methods: Invader DNA assay targets the 35delG mutation in
the GJB2 gene using a sequence specific DNA probe and
fluorescent resonance energy transfer (FRET) for signal
amplification; the entire coding region, exon/intron
boundaries, and 5'-UTR of the GJB2 gene is bidirectionally
sequenced.
Analytical Sensitivity and Specificity: Greater than 99%.
Limitations: 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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
83891 Isolation: 83898 x2 Amplification; 83904 x3 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report.
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Cross References: |
GJB2 (Connexin 26 (GJB2), Sequencing)
, Hearing Loss, Nonsyndromic (Connexin 26 (GJB2), Sequencing)
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