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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 Respiratory Chain Complex III Deficiency Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Information: Mitochondrial complex III (ubiquinol-cytochrome c reductase), one of five complexes of mitochondrial respiratory chain, consists of 11 subunits and 1 assembly protein. One of the subunit genes is encoded by mitochondrial genome and others are encoded by nuclear genome. Mutations in 4 nuclear genes have been identified to results in mitochondrial complex III deficiency. This analysis will sequence every coding exon of the 4 nuclear genes known to be associated with complex III deficiency. Therefore, this panel is a diagnostic test for patients suspected with mitochondrial complex III.
Test Details
Test Code: 2165
Special Notes: All exons of these four 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, insertions, etc.), mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.

Sequence Analysis for the four genes in the Mitochondrial Respiratory Chain Complex III Deficiency Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: BCS1L (#3110), TTC19 (#2715), UQCRB (#2720), and UQCRQ (#2725).
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: BCS1L, TTC19, UQCRB, and UQCRQ
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).
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
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x4


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