| Test Information: |
Mitochondrial respiratory chain contains 5 complexes, e.g. complex I, II, III, IV and V, which plays a critical role for generating ATP. Dysfunction of mitochondrial respiratory chain may cause a group of heterogeneous disorders with a variety of clinical presentations. Mostly involved is neural-muscle system. 2) This panel analyzes the sequence of 43 genes reported to be involved in the normal functioning of those complexes. Every nucleotide in the coding exons and immediate intronic sequences adjacent to intron-exon border will be examined. It is a diagnostic test for patients suspected with deficiency in any one of the five complexes, or combined deficiency with no clinical findings suggesting particular complex. |
| Special Notes: |
All exons of these 43 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 43 genes in the Mitochondrial Respiratory Chain Complex I - V Deficiency Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: ATPAF2 (ATP12) , ATP5E (#3290), BCS1L (#3110), COX10 (#3100), COX15 (#3545), COX4I2, COX6B1,FASTKD2 (#3555), FOXRED1 (#2660), LRPPRC (#3240), NDUFA1 (#3485), NDUFA2 , NDUFA8, NDUFA10, NDUFA11 (#2680), NDUFA13, NDUFAF1 (#3940), NDUFAF2 (#3535), NDUFAF3 (#2690), NDUFAF4, NDUFAF5, NDUFS1 (#2700), NDUFS2 , NDUFS3 (#3570), NDUFS4 (#3560), NDUFS6 (#3565), NDUFS7, NDUFS8 (#3845), NDUFV1 (#3590), NUBPL (#2710), SCO1 (#3095), SCO2 (#3090),SDHA (#3180), SDHB (#3185), SDHC (#3190), SDHD (#3195), SDHAF1 (#3675), SURF1 (#3085), TACO1 (#2745), TMEM70 (#3735), TTC19 (#2715), UQCRB, and UQCRQ.
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