Clinical Indication ID & Name
Malignant hyperthermia
Test Group
Neurology
Specialties
Test code
R371.1
Test name
N/A
Target genes
RYR1, CACNA1S, STAC3
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Confident clinical diagnosis of malignant hyperthermia; anaesthetic history reviewed by MH investigation unit as appropriate. Reasons for referral:
1. Family history of malignant hyperthermia.
2. Adverse reaction to general anaesthesia where a trigger agent has been used, involving any
combination of signs of increased metabolism (unexplained increase in carbon dioxide production, tachycardia, temperature increase, muscle rigidity, rhabdomyolysis, disseminated intravascular coagulation and/or death). Initial signs should be evident during anaesthesia or within 60 minutes of discontinuation of anaesthesia.
3. Family history of unexplained perioperative death suggestive of malignant hyperthermia.
4. Postoperative rhabdomyolysis after clinical exclusion of other myopathies.
5. Exertional rhabdomyolysis / recurrent rhabdomyolysis or persistently raised serum creatine kinase concentration of unknown cause (idiopathic hyperCKaemia) where no cause has been identified following neurological work-up.
6. Exertional heat stroke requiring hospital admission, where known predisposing factors have been excluded.
Test code
R371.2
Test name
N/A
Target genes
RYR1, CACNA1S, STAC3
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Confident clinical diagnosis of malignant hyperthermia; anaesthetic history reviewed by MH investigation unit as appropriate. Reasons for referral:
1. Family history of malignant hyperthermia.
2. Adverse reaction to general anaesthesia where a trigger agent has been used, involving any
combination of signs of increased metabolism (unexplained increase in carbon dioxide production, tachycardia, temperature increase, muscle rigidity, rhabdomyolysis, disseminated intravascular coagulation and/or death). Initial signs should be evident during anaesthesia or within 60 minutes of discontinuation of anaesthesia.
3. Family history of unexplained perioperative death suggestive of malignant hyperthermia.
4. Postoperative rhabdomyolysis after clinical exclusion of other myopathies.
5. Exertional rhabdomyolysis / recurrent rhabdomyolysis or persistently raised serum creatine kinase concentration of unknown cause (idiopathic hyperCKaemia) where no cause has been identified following neurological work-up.
6. Exertional heat stroke requiring hospital admission, where known predisposing factors have been excluded.
Commissioning group
Specialised
Overlapping idications
n/a
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form