The overall incidence of GSDs as a group is estimated to be 1 in 20,000-43,000 births. GSDs primarily affect the liver, the muscle, or both. Although the phenotype range is broad, the majority of clinical manifestations are hepatomegaly, failure to thrive, hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. The GSD Comprehensive Sequencing Panel covers genes in which pathogenic variants cause both muscle and liver isoforms of GSD. This panel also includes genes for disorders that have overlapping phenotype with GSDs such as Fanconi-Bickel syndrome, fructose-1,6-biphosphatase deficiency, and glycogen storage disease of heart, lethal congenital.
- Burwinkel et al. (2005), Am J Hum Genet, 76:1034-1049.
- Morris et al. (1995), J Inherit Metab Dis, 18:28-32.
- Santer, Steinmamm, and Schaub. (2002), Curr Mol Med, 2:213-227.
- Confirmation of a clinical diagnosis of glycogen storage disorders (GSDs).
- Carrier testing in adults with a family history of glycogen storage disorders (GSDs).
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 60 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Pompe (dry blood spot - test code DZ; leukocytes - DW).
- Glycogen Storage Disorders: Deletion/Duplication Panel