Reference Interval:
By report
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| Interpretive Data: |
Background Information for Hearing Loss, Nonsyndromic, Mitochondrial DNA 2 Mutations
Characteristics: mt-RNR1 m. 1555A>G is associated with non-syndromic hearing loss (NSHL) and a predisposition to aminoglycoside ototoxicity resulting in stable, severe to profound hearing loss with variable age of onset. mt-TS1 m.7445A>G is associated with progressive, mild to severe hearing loss of childhood onset and palmoplantar keratoderma.
Incidence: Approximately 1 in 50 individuals with NSHL has a mitochondrial mutation; 1 in 140,000 in the general population.
Inheritance: Dominant maternal inheritance.
Cause: Mitochondrial DNA mutations.
Mutations Tested: m.1555A>G and m.7445A>G.
Clinical Sensitivity: Dependent on ethnicity.
Methodology: Targeted bidirectional sequencing of mitochondrial mt-RNR1 m.1555A>G and mt-TS1 m.7445A>G.
Analytical Sensitivity and Specificity: 99 percent
Limitations: Rare diagnostic errors can occur due to primer site mutations. 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.
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 x2 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
CX26 SEQ (Hearing Loss, Nonsyndromic, Mitochondrial DNA 2 Mutations), HL PANEL (Hearing Loss, Nonsyndromic, Mitochondrial DNA 2 Mutations) |
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