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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 Point Mutation Quantification
Test Information: ***EFFECTIVE 01/03/2014, THIS TEST WILL BE DISCONTINUED. AS AN ALTERNATIVE, WE RECOMMEND ORDERING TEST CODE 2010 - Advanced mtDNA Point Mutations and Deletions by Massively Parallel Sequencing (BCM-MitomeNGS). PLEASE SEE (#2010) or (Discontinuation of Test Codes 3000, 3005 and 3006) FOR MORE INFORMATION.***

Confirmation of Clinical Diagnosis - Known Familial Mutation(s), Carrier Testing - Known Familial Mutation(s)


Test Details
Test Code: 3005
Test Includes: Test available only if a specific mutation has already been identified in the family by mtDNA Screening Panel test (#3000).



Special Notes: Test available only if a specific mutation has already been identified in the family by mtDNA Screening Panel test (#3000).

Low level heteroplasmy may be assessed by qPCR (test code 3005) when there is a family history of one of the following common mutations: m.3243A>G, m.3271T>C, m.3460G>A, m.8344A>G, m.8363G>A, m.8993T>C, m.8993T>G, m.11778G>A, m.14459G>A, m.14484T>C, m.13513G>A, or m.13514A>G. Heteroplasmy for other specific nucleotide changes in the mitochondrial genome may be assessed via test code 2056.
Technical Information
Methodology: ARMS quantitative PCR
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: Urine
Requirements: Send >10 cc of urine. Do not add preservatives and paraffin wrap tube. Store the specimen at room temperature.
Shipping Conditions: Ship at room temperature with cold packs in an insulated container by overnight courier.

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


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