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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Mitochondrial Nonsyndromic Hearing Loss and Deafness Mutation Panel
Test Information: Confirmation of Clinical Diagnosis, Risk Assessment - Positive Family History (no familial mutation known)

Test Details
Test Code: 3030
Test Includes: Full sequence analysis of the MT-RNR1, MT-TS1, MT-TS2 genes. This test will detect the common mutations in the MT-RNR1 gene, 1494C>T, 1555A>G and the common mutations found in the MT-TS1 gene, 7472insC, 7445A>G, 7510T>C, 7511T>C, 7512T>C.


Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3031). Please see detailed requirements under this test code.

Sequence analysis does not detect low mutant heteroplasmy. Heteroplasmy <50% may not be detected.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: MT-RNR1, MT-TS1, MT-TS2, MTRNR1
Protein Name: Mitochondrial 12S ribosomal RNA, Mitochondrial tRNA serine 1, Mitochondrially encoded tRNA serine 2 (AGU/C)
Sample & Shipping Information
Test Requisition: Mitochondrial
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Specimen Type: Saliva
Requirements: Collected with Oragene DNA Self-Collection Kit (provided by MGL with instruction).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Specimen Type: Skeletal Muscle
Requirements: 50 mg for muscle DNA analysis, 150mg for muscle ETC analysis, >200mg if additional tests are requested.
Shipping Conditions: Skeletal Muscle should be flash frozen in liquid nitrogen at collection with no media added, stored at -80C, and shipped by overnight courier on 3-5 lbs of dry ice.

Specimen Type: Tissue
Requirements: 50 mg of heart, brain, liver, kidney or fibroblast cultures for DNA analysis.
Shipping Conditions: Tissues such as liver and kidney should be flash frozen in liquid nitrogen at collection with no media added, stored at -80C, and shipped by overnight courier on 3-5 lbs of dry ice.

Turn Around Time: 0 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81401x2


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