| Mitochondrial Respiratory Chain Complex II Deficiency Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
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| Test Information: |
Mitochondrial complex II (succinate dehydrogenase) is one of five complexes consisting of mitochondrial respiratory chain, which plays a critical role for generating ATP. Dysfunction of mitochondrial complex II has been reported to be associated with mitochondrial complex II deficiency or tumors such as paraganglioma/pheochromocytomas syndrome. There are 4 subunits and 2 assembly factors related to the complex II. Mutations that result in mitochondrial complex II deficiency are inherited in an autosomal recessive mode; however, mutations predisposition to tumors are inherited in an autosomal dominant mode, with loss of heterozygosity in tumors. This panel will sequence each coding exon of 4 subunit genes and 2 assembly genes, and it is good for patients suspected with mitochondrial complex II deficiency or paraganglioma/pheochromocytomas syndrome. |
| Test Details |
| Test Code: |
2160 |
| Special Notes: |
All exons of these six 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, insertions, etc.), mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.
Sequence Analysis for the six genes in the Mitochondrial Respiratory Chain Complex II Deficiency Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: SDHA (#3180), SDHB (93185), SDHC (93190), SDHD (93195), SDHAF1 (#3675), and SDHAF2 (#3230).
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| Technical Information |
| Methodology: |
Targeted Capture followed by Massively Parallel Sequencing |
| Gene Name: |
SDHA, SDHB, SDHC, SDHD, SDHAF1, and SDHAF2 |
