Malignant Hyperthermia Panel, Sequencing
Also known as: MH NGS
Use
Malignant hyperthermia (MH) is a pharmacogenetic disorder triggered by volatile anesthetics, which causes excessive calcium release in skeletal muscles leading to hypermetabolic states. This test identifies genetic variants in genes like RYR1 and CACNA1S that indicate susceptibility to MH, aiding in the diagnosis and management of at-risk individuals or those with a family history of MH.
Special Instructions
Not provided.
Limitations
This test does not detect variants outside the coding regions and intron-exon boundaries of the targeted genes. Regulatory region variants and deep intronic variants go unidentified. Diagnostic errors can occur due to rare sequence variations, pseudogenes, or homologous regions. The test might not detect low-level mosaic or somatic variants or accurately address noncoding transcripts. Certain RYR1 exons might not be covered due to technical constraints.
Methodology
NGS (Targeted)
Biomarkers
RYR1, CACNA1S
Gene
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1.5 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
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