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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 DNA Content (qPCR) Analysis - Skeletal Muscle
Test Information: Mitochondrial DNA (mtDNA) Content Quantification determines if mtDNA depletion is present in the sampled tissue. The mtDNA content measurement, together with the clinical features, facilitates the selection of causative nuclear genes for sequence analysis.

Mitochondrial DNA depletion is a heterogeneous group of disorders characterized by the reduction of mtDNA content in affected tissues. Affected patients usually present in infancy with hypotonia, lactic acidemia, encephalopathy, hepatopathy, or myopathy. Mutations in at least 10 nuclear genes are known to cause various forms of mtDNA depletion syndromes, including severe infantile hepatic, hepatocerebral, myopathic, or encephalomyopathic forms.

Reasons for Testing:

Suspicion of mtDNA depletion syndrome
Test Details
Test Code: 3700
Special Notes: We recommend ordering mtDNA Content (qPCR) Analysis with ETC Enzyme Analysis (#3200) on Skeletal Muscle. If performed together, please send 100mg Skeletal Muscle. Please read Skeletal Muscle specimen requirements below.

This analysis can be performed on Liver (#3720).
Technical Information
Methodology: The mtDNA and nuclear DNA (nDNA) contents are determined by real-time quantitative PCR using specific primers for the mitochondrial tRNALeu(uur) gene and the nuclear -2-microglobulin (2M) gene. The mtDNA copy number is calculated from the difference in threshold cycle numbers of mtDNA and nDNA.
Sample & Shipping Information
Test Requisition: Mitochondrial
Specimen Type: Skeletal Muscle
Requirements: 25 mg for muscle mtDNA Content (qPCR) Analysis
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.

Turn Around Time: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x1


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