| Mitochondrial Respiratory Chain Complex IV Deficiency Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
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| 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 10 genes will be examined, thus, it is diagnostic for mitochondrial complex IV deficiency. |
| Test Details |
| Test Code: |
2170 |
| Special Notes: |
All exons of these 10 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 10 genes in the Mitochondrial Respiratory Chain Complex IV Deficiency Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: COX10 (#3100), COX15 (#3545), COX4I2 (#2735), COX6B1 (#3625), FASTKD2 (#3555), LRPPRC (#3240), SCO1 (#3095), SCO2 (#3090), SURF1 (#3085), and TACO1 (#2745).
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| Technical Information |
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| Methodology: |
Targeted Capture followed by Massively Parallel Sequencing |
| Gene Name: |
COX10, COX15, COX4I2, COX6B1, FASTKD2, LRPPRC, SCO1, SCO2, SURF1, and TACO1 |
