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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 ATPase Subunits Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 3045
Test Includes: Mitochondrial ATPase Subunits Sequence Analysis includes MT-ATP6 (ATP6) and MT-ATP8 (ATP8).

The most common mutations are 8993T>G and 8993T>C in MT-ATP6, responsible for Leigh disease and NARP (Neuropathy, ataxia, retinitis pigmentosa) syndrome. Sequencing of ATPase subunits may reveal other pathogenic mutations.

Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3046). Please see detailed requirements under this test code.

Common mutations 8993T>G and 8993T>C in MT-ATP6 are included in the Mitochondrial DNA Screening Panel (#3000).

Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: MT-ATP6 (ATP6), MT-ATP8 (ATP8)
Protein Name: ATP synthase subunit a, ATP synthase 8
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: Skeletal Muscle (Preferred)
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: 21 days
Billing Information
List Price: $510.00 *Institutional discounts may apply, please call.
CPT Codes: 83912x1, 83904x4, 83909x1, 83898x2, 83894x1, 83891x1


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