PYGM Deletion/Duplication Analysis

Clinical Use

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

Not provided.

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.

Test Details