Glycogen Storage Disease (GSD) and Disorders of Glucose Metabolism Panel
Use
This test is intended for individuals who present with clinical or suspected Glycogen Storage Disease (GSD), characterized by abnormal glycogen accumulation or structure observed in liver or muscle biopsy. The panel includes a comprehensive analysis of 33 genes associated with GSD and related metabolic disorders, providing valuable genetic information for diagnosis and management of these conditions.
Special Instructions
Testing is available through exome or genome platforms, with options for STAT testing to expedite results within 7-16 days. Orders can be placed online or using the downloadable test requisition form. Ensure all specimens and accompanying clinical information are properly labeled and submitted according to guidelines.
Limitations
The accuracy of detecting all relevant genetic variants may be influenced by the specific nature of the mutations and the quality of the submitted sample. Not all CNVs may be identified; further investigation may be required for some cases. Variants with low coverage or regions with high GC content may present challenges in detection.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided