TEST NAME
– Glycogen Storage Disorder Gene Panel
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ABOUT TEST
– Some forms of glycogen storage disease (GSD) affect only one tissue type, whereas others affect multiple organ systems. Broadly speaking, the GSDs can be divided into those with hepatic involvement, which manifest mainly as hypoglycemia, and those associated with neuromuscular disease and weakness. The severity of GSDs ranges from fatal in infancy if untreated to mild disorders with a normal lifespan. Lafora disease, one form of myoclonic epilepsy, is characterized by accumulation of Lafora bodies composed of starch-like polyglucosans, which are insufficiently branched and hence insoluble glycogen molecules. Thus, Lafora disease belongs to the GSD and is included to this panel. This panel enables the genetic basis of GSDs to be readily determined in a clinical setting. The estimated disease incidence for all forms of GSD in the United States is approximately 1 in 20,000 – 25,000 births. These disorders are found in all ethnic groups; different GSD types are enriched in certain populations due to founder mutations. The majority of GSDs are inherited in an autosomal recessive manner. However, two forms of GSD are inherited in an X-linked recessive manner.
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GENES TESTED
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SAMPLE REQUIREMENTS
– Amniotic fluid/ Chorionic villi/ Peripheral blood
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TAT
– 60
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Related Tests
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