|GSD Muscle Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
||Glycogen storage diseases (GSDs) are a group of inherited genetic defects of glycogen synthesis or catabolism. GSDs are categorized into 14 subtypes, based on the specific enzyme deficiency and disease phenotype. Common symptoms include hypoglycemia, hepatomegaly, developmental delay and muscle cramps. Based on major clinical presentation, GSDs can be divided into two sub-forms: muscle and liver. This panel includes genes responsible for the muscle form of GSDs.
Nine nuclear encoded genes involved in the muscle form of GSDs 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.
AGL (#3670), GAA (#3400), GYS1 (#3835), PFKM (#3820), PGAM2 (#3805), PGM1 (#2520), PHKA1 (#3985), PHKB (#3975), PYGM (#3800).
All coding exons of these 9 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
||AGL, GAA, GYS1, PFKM, PGAM2, PGM1, PHKA1, PHKB, PYGM