Ordering Recommendation

Use to determine genetic etiology of malignant hyperthermia susceptibility (MHS) in individuals with known or suspected clinical history of malignant hyperthermia (MH). Use to assess for MHS in healthy individuals with family history of MH.

Mnemonic

MH NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: CACNA1S, RYR1*
*One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.

Hotline History

N/A

CPT Codes

81408, 81479

Components

Component Test Code* Component Chart Name LOINC
3002689 Malignant Hyperthermia Specimen
3002690 Malignant Hyperthermia Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • malignant hyperpyrexia
  • Malignant hyperthermia susceptibility (MHS)
Malignant Hyperthermia Panel, Sequencing