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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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Targeted mtDNA Analysis by Massively Parallel Sequencing (MitoNGSSM)
Test Details
Test Code: 2056
Special Notes: This test can only be performed if there is a previously identified familial mutation or unclassified variant. A laboratory report containing the relative's mutation information, the specific biological relationship of this patient to the previously tested relative and the clinical status of this patient (symptomatic or asymptomatic) must be submitted with the specimen. If the original familial mutation was identified in another laboratory, this testing must be discussed with one of our genetic counselors prior to sending a specimen.

This analysis will provide targeted analysis and heteroplasmy quantification for mtDNA point mutations and unclassified variants. The detection threshold of massively parallel sequencing analysis for heteroplasmic mitochondrial DNA point mutations is approximately 1.5% for the Illumina HiSeq 2000 platform. This analysis will not provide heteroplasmy quantification for mtDNA large deletion and multiple deletions.
Technical Information
Methodology: Next Generation (NextGen) Sequence Analysis using an Illumina HiSeq 2000 platform
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: Fresh Frozen Tissue (including skeletal muscle, liver)
Requirements: 50mg for Tissue
Shipping Conditions: Fresh Tissue 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: Purified DNA
Requirements: Send at least 5ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.


Turn Around Time: 50 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479 x 1


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