|Mitochondrial Respiratory Chain Complex V Deficiency Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
||A distinct group of inborn defects of mitochondrial complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria.
Three nuclear genes involved in mitochondrial complex V deficiency are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation Sequence (NGS) technology. The genes analyzed by this panel are tabulated below . Sanger sequencing of these genes is also available using the associated individual test codes.
ATPAF2 (ATP12), ATP5E (#3290) and TMEM70 (#3735).
All coding exons of these 3 nuclear genes and at least 20 base pairs of flanking intronic sequences are analyzed. All exonic variants and intronic variants within 20 bp of the exon/intron boundary will be reported. Sequence analysis will not detect genomic structural rearrangements (e.g. heterozygous deletions, duplications, and inversions), large heterozygous insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants detected by NGS are confirmed by Sanger sequencing.
Mitomet deletion/duplication analysis (#2003) for the genes covered by this panel is also available.
||Targeted Capture followed by Massively Parallel Sequencing
||ATP5E and TMEM70