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Malignant Hyperthermia Susceptibility Panel

A 3-gene panel for assessing malignant hyperthermia susceptibility, powered by the Helix Exome+® platform for comprehensive anesthesia risk evaluation.

Turnaround

6-9 days

Turnaround Requery

≤ 5 days

Test Description

This panel evaluates 3 genes associated with malignant hyperthermia.

View a complete description of this panel
Sample negative report

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

A relevant personal and/or family history suggestive of Malignant Hyperthermia Susceptibility (MHS) or patients preparing to be exposed to anesthetics for the first time.

Methodology

This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with Malignant Hyperthermia Susceptibility (MHS).This panel includes 3 genes that are associated with MHS.

Technical Specifications

Analytical sensitivity (SNV)> 99%Analytical sensitivity (indel)> 99%Analytical specificity> 99%CNV sensitivity (multi-exon)> 99%CNV sensitivity (single-exon)> 90%Gene notesCACNA1S: Sensitivity to exon 91 may be reduced. STAC3: Sensitivity to exon 7 may be reduced.Genomic buildGRCh38

Genes Tested

CACNA1S
RYR1
STAC3

Showing 3 of 3 genes in this panel

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Important Panel Information

Turnaround time: Typically 7-21 days (standard), Typically < 5 days (requery)

Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit

Shipping instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.

Malignant Hyperthermia Susceptibility (MHS) is a potentially life-threatening pharmacogenetic disorder characterized by a severe reaction to certain anesthetics. When exposed to these medications, individuals with MHS can experience severe reactions including rapid temperature elevation, muscle rigidity, increased CO2 production, acidosis, and rhabdomyolysis.

STAC3-related congenital myopathy, also known as Native American Myopathy, is a rare inherited muscle disorder characterized by congenital muscle weakness, skeletal abnormalities, and susceptibility to malignant hyperthermia.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.