GSD Muscle Panel by Massively Parallel Sequencing
Use
The Glycogen Storage Disorder Muscle Panel is specifically designed to evaluate 13 nuclear-encoded genes associated with glycogen synthesis and catabolism, predominantly addressing those relevant to the muscle form of glycogen storage disorders (GSD). These disorders are linked to the accumulation of glycogen within the body, leading to significant clinical manifestations like muscle weakness, impaired growth, hypoglycemia, and broader metabolic complications. Testing is particularly indicated for patients presenting with symptoms such as muscle atrophy and fatigue, linking genetic testing to clinical diagnosis and potential future management options.
Special Instructions
For optimal results, samples must be collected using appropriate methods, including blood collection in EDTA tubes or swabs in self-collection kits. Professionals should oversee collection to ensure sample viability. Shipping should be done in insulated containers at room temperature, avoiding any freezing or heating of the samples. Ensure prompt dispatch, especially for samples needing rapid analysis.
Limitations
The interpretation of genetic variants is dynamic; it may evolve as ongoing research yields new insights into these genes. Potential complications may arise from sample mix-ups or variants that hinder analysis, affecting the reliability of results. Also, the test cannot detect certain structural variations such as small copy number variants, genomic rearrangements, or complex repetitive regions that could mask specific mutations. Consulting a genetic counselor for further clarity is advised if any potential discrepancies in results occur.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
10cc
Minimum Volume
5cc
Container
EDTA tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s) for the patient and both parents.
Storage Instructions
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |