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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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Mitochondrial Respiratory Chain Complex V Deficiency Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Information: A distinct group of inborn defects of mitochondrial complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria.
Test Details
Test Code: 2175
Special Notes: Three nuclear genes involved in mitochondrial complex V deficiency are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation Sequence (NGS) technology. The genes analyzed by this panel are tabulated below . Sanger sequencing of these genes is also available using the associated individual test codes.

ATPAF2 (ATP12) (#3270), ATP5E (#3290) and TMEM70 (#3735).

All coding exons of these 3 nuclear genes and at least 20 base pairs of flanking intronic sequences are analyzed. All exonic variants and intronic variants within 20 bp of the exon/intron boundary will be reported. Sequence analysis will not detect genomic structural rearrangements (e.g. heterozygous deletions, duplications, and inversions), large heterozygous insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants detected by NGS are confirmed by Sanger sequencing.

Mitomet deletion/duplication analysis (#2003) for the genes covered by this panel is also available.
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: ATPAF2 (ATP12), ATP5E and TMEM70
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: 81479x3


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