All exons of these eight 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 eight genes in UCD and Hyperammonemia Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: CPS1 (#3345), NAGS (#3350), OTC (#3140), ASS1 (#6180), ASL (#6360), ARG1 (#3425), SLC25A13 (#3155) and SLC25A15 (#3235).