skip to content »

Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
not shown on screen

Medical Genetics Test Details

View Custom Req   |    Tests in Custom Req: 0
Search Tests: (Search by disease, test name, gene name, test code, or keyword. Return to test index.)

    Browse:  # A B C D E F G H I J K L M N O P Q R S T U V W X Y Z



Mitochondrial Respiratory Chain Complex IV Deficiency Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Information: Mitochondrial complex IV (cytochrome c oxidase), one of five complexes of mitochondrial respiratory chain that plays a critical role for generating ATP, contains 10 nuclear encoded subunits and 3 mitochondrial encoded subunits. Five gene products are required for its assembly. This panel will analyze 12 genes that are involved in functionality of the complex IV. Every coding exon of these 12 genes will be examined, thus, it is diagnostic for mitochondrial complex IV deficiency.
Test Details
Test Code: 2170
Special Notes: All exons of these 12 genes are examined by NGS and Sanger Sequencing. 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 12 genes in the Mitochondrial Respiratory Chain Complex IV Deficiency Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: COX10 (#3100), COX15 (#3545), COX4I1 (#2730), COX4I2 (#2735), COX6B1 (#3625), COX7A1 (#2740), FASTKD2 (#3555), LRPPRC (#3240), SCO1 (#3095), SCO2 (#3090), SURF1 (#3085), and TACO1 (#2745).
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: COX10, COX15, COX4I1, COX4I2, COX6B1, COX7A1, FASTKD2, LRPPRC, SCO1, SCO2, SURF1, and TACO1
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: 81479x12


Return to test index