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Malignant Hyperthermia Susceptibility Panel

This panel evaluates 3 genes associated with malignant hyperthermia.

Turnaround

6-9 days

Requery (SOQO)

≤ 5 days

Genes Tested

3

Panel Description

This panel evaluates 3 genes associated with malignant hyperthermia.

Order This Test

Contact our clinical team to order this panel or learn more.

(855) 699-1933
clinicalsupport@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 notes

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

Genomic build

GRCh38

Genes Tested

3 genes included in this panel

CACNA1SRYR1STAC3

Ordering Information

Turnaround Time

Typically 6-9 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.

Clinical Description

This panel evaluates 3 genes associated with malignant hyperthermia.

Ready to order this test?

Contact our clinical team to order the Malignant Hyperthermia Susceptibility Panel for your patients.