GSD Comprehensive Panel by Massively Parallel Sequencing
Use
The Glycogen Storage Disorder (GSD) Comprehensive Panel assesses 23 nuclear-encoded genes involved in glycogen synthesis or catabolism, targeting both muscle and liver forms of GSD. Conditions tested include various inherited disorders that result in glycogen accumulation, leading to symptoms such as delayed growth, hypoglycemia, muscle weakness, and liver enlargement. The test is essential for patients with clinical indications of glycogen storage disorders and can aid in early diagnoses and management.
Special Instructions
Blood samples should be drawn in an EDTA (purple-top) tube. It is preferable for samples to be collected by a healthcare professional. Ensure prompt shipping of samples at room temperature and avoid freezing. Genetic counseling is advised if there are concerns regarding test interpretation or familial implications.
Limitations
Interpretation of nucleotide variations may change as additional information is gathered on the genes analyzed. Diagnostic accuracy can be impacted by sample mislabeling, genetic variants that hinder analysis, erroneous parentage assignment, and other potential sources of errors. Consultation with a trained genetic counselor is recommended if any issues arise regarding the test results or procedures.
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 (Fresh)
Volume
3-5 cc
Minimum Volume
3 cc (infant<2yrs)
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s) and send.
Storage Instructions
Ship at room temperature by overnight courier; do not heat or freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hrs |