Reference Interval:
By report
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| Interpretive Data: |
Background Information for Hearing Loss, Connexin 26 (GJB2) 35delG Mutation:
Characteristics: Nonsyndromic hearing loss; paired recessive mutations typically cause congenital deafness while dominant mutations have variable expressivity.
Incidence: Approximately 1 in 6500.
Inheritance: Autosomal recessive or dominant depending on specific GJB2 mutation; the 35delG mutation is autosomal recessive.
Cause: Deleterious GJB2 gene mutations; 35delG is the most common mutation in Caucasians.
Clinical Sensitivity: 80 percent of GJB2 mutations in Caucasians; less in other ethnicities.
Methodology: Invader assay targets the GJB2 35delG mutation using a sequence specific probe and fluorescent resonance energy transfer (FRET) for signal amplification.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to probe site mutations. GJB2 mutations, other than 35delG, will not be detected. Mutations in other genes causing nonsyndromic hearing loss 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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| Note: |
ARUP Medical Director or Genetic Counselor approval is required prior to testing. Before ordering, contact a Genetic Counselor at (800)242-2787, extension 2141.
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| CPT Code(s): |
83891 Isolation; 83896 x2 Nucleic acid probes; 83912 Interpretation and report
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Cross References: |
GJB2 (Hearing Loss, Nonsyndromic, Connexin 26 (GJB2) 35delG Mutation)
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