| CoQ10 Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
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| Test Information: |
Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain. Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder with 5 major phenotypes: an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. |
| Test Details |
| Test Code: |
2100 |
| Special Notes: |
All exons of these five 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, 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 five genes in CoQ10 Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: PDSS1 (#3405), PDSS2 (#3410), COQ2 (#3415), COQ9 (#3775),and ADCK3 (COQ8/CABC1) (#3850).
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| Technical Information |
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| Methodology: |
Targeted Capture followed by Massively Parallel Sequencing |
| Gene Name: |
PDSS1, PDSS2, COQ2, COQ9,and ADCK3 (COQ8/CABC1) |
| Test Type: |
Next Gen Sequencing Panel Analysis |
