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

R419

Acute Rhabdomyolysis

Test Group

Neurology

Specialties

Neurology Intensive Care Clinical Genetics Metabolic Medicine Nephrology

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

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