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 available only if a specific mutation has already been identified in the family by mtDNA Screening Panel test (#3000).|
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.
|Methodology:||ARMS quantitative PCR|
|Sample & Shipping Information|
|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.
|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|
|List Price:||*For Insurance or Institutional Prices, please call.|