Xeris Pharmaceuticals Uncovering Periodic Paralysis
Use
This test is designed to uncover genetic variants associated with periodic paralysis conditions, specifically focusing on hyperkalemic and hypokalemic primary periodic paralysis. These conditions are characterized by episodic muscle weakness or paralysis attacks, with triggers such as exposure to cold, rest after exercise, stress, fatigue, and specific food intake. The genetic testing covers six genes and aims to clarify diagnosis and tailor patient management strategies.
Special Instructions
The test is part of a no-charge genetic testing program sponsored by Xeris Pharmaceuticals, available to eligible patients in the US. Patients must meet specific criteria related to age, residence, and medical history, with documented episodes of muscle weakness or paralysis linked to common triggers for periodic paralysis.
Limitations
The test focuses on genetic variants linked to specific triggers of periodic paralysis and may not identify all potential causes of episodic muscle weakness or paralysis. Genetic factors outside the covered six genes might contribute to the condition. As a specialized test, it may not detect all rare or novel variants, and results should be considered in the broader context of clinical evaluation.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 ml - 5 ml
Minimum Volume
1 ml
Container
EDTA (purple top tube) or ACD (yellow top tube)
Storage Instructions
At room temperature or refrigerated, stable for up to 8 days.