Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R371

Malignant hyperthermia

Test Group

Neurology

Specialties

Clinical Genetics Other

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old