What Can Be Learned From This Test
Testing is performed by sequencing the entire coding region of PYGM. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication. Partial sequencing of exons 1 and 5 can be carried out; please note on submission form if this tiered approach is being requested.
A negative test result does not rule out a genetic cause of myopathy. There are many other genetic forms of myopathy, and this test will only detect mutations associated with glycogen storage disease type V, caused by deficiency of glycogen phosphorylase, muscle form.
Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).
Turnaround time: 10-14 business days
CPT Codes and Cost
Exon Sequencing (1 & 5 Only)
Full Gene Sequencing
Known Variant Testing