Clinical Indication ID & Name
Alveolar Rhabdomyosarcoma
Test Group
Sarcomas
Specialties
Test code
M42.1
Test name
FOXO1 rearrangement FISH
Target genes
FOXO1
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
To differentiate from embryonal rhabdomyosarcoma
Test code
M42.2
Test name
PAX3-FOXO1 rearrangement FISH or RT-PCR
Target genes
PAX3-FOXO1
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
To differentiate from embryonal rhabdomyosarcoma
Test code
M42.3
Test name
PAX7-FOXO1 rearrangement FISH or RT-PCR
Target genes
PAX7-FOXO1
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
To differentiate from embryonal rhabdomyosarcoma
Test code
M42.4
Test name
WGS Germline and Tumour
Target genes
All including burden / signature
Test scope
All variant types
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
WGS at pathologist discretion – not essential in all cases
Test code
M42.5
Test name
Multi-target NGS panel - structural variant (FOXO1, PAX3-FOXO1, PAX7-FOXO1 NTRK1, NTRK2, NTRK3)
Target genes
FOXO1, PAX3-FOXO1, PAX7-FOXO1 NTRK1, NTRK2, NTRK3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
To differentiate from embryonal rhabdomyosarcoma / Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected
Commissioning group
n/a
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
Cancer WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
n/a
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form