Medical Genetics Test Details
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|MtDNA Depletion/Integrity Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)|
|Test Information:||Mitochondrial diseases can be caused by mutations in mitochondrial DNA (mtDNA) or in nuclear genes that encode proteins functioning in mitochondria. About 80-95% of patients with mitochondrial disorders do not harbor a pathogenic mutation in the mitochondrial genome. A large proportion of these cases may have defects in nuclear-encoded genes that are involved in the biosynthesis of the mitochondrial genome or in the maintenance of mtDNA integrity. The MitomeNGS depletion panel is appropriate for patients suspected of having one of the various forms of mtDNA depletion syndrome and/or mtDNA multiple deletions.|
Twenty nuclear encoded genes involved in the biogenesis of the mitochondrial genome and the maintenance of mtDNA integrity are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation sequence technology. These genes are tabulated below and sequencing of subsets of the MitomeNGS panel may be ordered using the individual test codes listed.
All exons of these 20 genes are examined by NGS. Exonic variants and intronic variants within 20bp of the exon/intron boundary will be reported. This massively parallel sequence analysis (MitomeNGS®) will not detect genomic structural rearrangements (eg. deletions, duplications, inversions, etc.), large insertion mutations (e.g. ALU mediated insertion, etc), mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.
Sequence Analysis for the 20 genes in MtDNA Depletion/Integrity Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: APTX (#29005), C10orf2 (#3175), DGUOK (#3075), DNA2 (#5160), FBXL4 (#29015), GFER (#29010), MGME1 (#5055), MPV17 (#3320), OPA1 (#3465), OPA3 (#3525), POLG (#3065), POLG2(#3380), RRM2B (#3420), SLC25A4 (#3170), SPG7 (#5335), SUCLA2 (#3375), SUCLG1 (#3390), SUCLG2 (#3960), TK2 (#3070) and TYMP (#3060).
|Methodology:||Targeted Capture followed by Massively Parallel Sequencing|
|Gene Name:||Please see "Special Notes" section for a list of genes.|
|Sample & Shipping Information|
|Requirements:||Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children).|
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs.
|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:||56 days|
|List Price:||*For Insurance or Institutional Prices, please call.|
|CPT Codes:||81404x1, 81406x1, 81407x1|