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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page
Request form download
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