Invitae Comprehensive Glycogen Storage Disease Panel
Use
The Invitae Comprehensive Glycogen Storage Disease panel analyzes genes associated with various glycogen storage diseases (GSDs). It is appropriate for individuals with signs and symptoms of hepatic or muscular GSD, such as recurrent hypoglycemia, hepatomegaly, exercise intolerance, and myopathy or myalgias. The panel may confirm a diagnosis and guide treatment and management decisions.
Special Instructions
Ordering information, including specimen collection instructions and a request for specimen collection kits, is available on the website. Contact client services with any questions about the test or its limitations.
Limitations
The analysis covers clinically important regions of each gene, including coding exons and surrounding intronic sequence. It does not cover sequence changes in the promoter, non-coding exons, and other non-coding regions unless explicitly guaranteed. Certain limitations exist for detecting structural rearrangements or variants embedded in complex sequence architectures.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)