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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.

Have Questions?

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

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 notes

CACNA1S: Sensitivity to exon 91 may be reduced. STAC3: Sensitivity to exon 7 may be reduced.

Genomic build

GRCh38

Genes Tested

CACNA1S
RYR1
STAC3

Showing 3 of 3 genes in this panel

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