Clinical Indication ID & Name
Acute Rhabdomyolysis
Test Group
Neurology
Test code
R419.1
Test name
N/A
Target genes
65 gene target panel to be created on PanelApp
Test scope
n/a
Test method/ technology
Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
Any patient (including children) presenting with an acute rise in skeletal muscle CK>20,000 iu/l regardless of the trigger, unless this occurs following a single episode of unaccustomed exercise not requiring hospital admission e.g. following weight lifting, a personal trainer session, spin class, marathon etc. However, a second similar episode should trigger testing.
Test code
R419.2
Test name
N/A
Target genes
65 gene target panel to be created on PanelApp
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Any patient (including children) presenting with an acute rise in skeletal muscle CK>20,000 iu/l regardless of the trigger, unless this occurs following a single episode of unaccustomed exercise not requiring hospital admission e.g. following weight lifting, a personal trainer session, spin class, marathon etc. However, a second similar episode should trigger testing.
Commissioning group
Highly Specialised
Overlapping idications
• R371 Malignant hyperthermia
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