PYGM Deletion/Duplication Analysis
Use
The PYGM Deletion/Duplication Analysis is designed to detect pathogenic deletions and duplications linked to glycogen storage disease type V (GSDV), also known as McArdle Disease, a metabolic disorder affecting muscle function. Characterized by symptoms such as exercise intolerance, fatigue, myalgia, and potentially rhabdomyolysis during exercise, GSDV often manifests within the first decade of life. Affected individuals may also suffer from recurrent myoglobinuria, which could lead to acute renal failure. Testing is crucial for individuals with a clinical suspicion of this condition or for those considering pregnancy with a family history of GSDV. Understanding one’s genetic makeup aids in managing health risks associated with this condition effectively.
Special Instructions
This test may be beneficial for patients with a suspected or clinical diagnosis of glycogen storage disease type V. Symptomatic individuals who have a family history or those planning to conceive can also benefit from knowing their carrier status. It is important to draw blood samples from the patient and both parents using EDTA tubes. The labs recommend shipping the samples at room temperature using an insulated container, ensuring they arrive within 72 hours.
Limitations
This analysis focuses specifically on deletions and duplications and does not assess for point mutations or other types of genetic alterations within the PYGM gene. Results may not provide conclusions about undetected genetic variants that may also contribute to the disease. Negative test results cannot completely rule out the possibility of glycogen storage disease type V as there's always a chance of error with test sensitivity. Carrier testing may yield variants of uncertain significance that require further examination to clarify clinical implications, if any.
Methodology
Microarray
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
at least 5cc (children) or 10cc (adults)
Minimum Volume
Not provided
Container
EDTA (purple-top) tube(s)
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 |