Invitae Malignant Hyperthermia Susceptibility Panel
Use
The Invitae Malignant Hyperthermia Susceptibility Panel analyzes genes associated with malignant hyperthermia, a pharmacogenetic condition of skeletal muscle. This genetic testing may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials. The condition can lead to a hypermetabolic response upon exposure to certain environmental triggers, potentially life-threatening if untreated.
Special Instructions
Not provided.
Limitations
The test has >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions under 15bp. Larger insertions and deletions may have reduced sensitivity. Structural rearrangements, mosaicism details, and variants in repetitive or segmentally duplicated regions may be missed. Single-exon copy number events may not be analyzed due to sequence properties or data quality reduction.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
CACNA1S, RYR1, STAC3
Gene
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant