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
14-21 days
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: 2 weeks; 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
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
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