Glycogen Storage Diseases Panel
€29.00
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This product is only meant for customers who already purchased a Dante Genome Test
Glycogen Storage Diseases (GSDs) are a group of congenital defects of glycogen metabolism, characterized by an impaired synthesis and/or degradation of this complex sugar for energy purposes. There are tissue-specific (hepatic and muscular) and multisystem forms, with cardiac, renal and cerebral involvement.
This panel is indicated for those who have a positive family history of the pathology and/or who present typical signs and symptoms of a GSDs.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
List of main conditions:
Glycogen Storage Diseases (GSDs) are a group of congenital defects of glycogen metabolism, characterized by an impaired synthesis and/or degradation of this complex sugar for energy purposes. There are tissue-specific (hepatic and muscular) and multisystem forms, with cardiac, renal and cerebral involvement.
This panel is indicated for those who have a positive family history of the pathology and/or who present typical signs and symptoms of a GSDs.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- 30 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Glycogen Storage Diseases
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