Clinical Indication ID & Name
Fumarate hydratase-related tumour syndromes
Test Group
Inherited cancer
Specialties
Test code
R365.1
Test name
N/A
Target genes
FH
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
1. Testing of affected individual (proband) with hereditary leiomyomatosis and renal cell cancer (HLRCC)
or other FH deficiency disorder where the individual +/- family history meets one of the following criteria.
The proband has:
a. Type 2 papillary, HLRCC associated RCC (WHO pathology definition) OR tubulo-papillary renal tumour at any age, OR
b. Two of: cutaneous leiomyomata, renal tumour (any histology) , OR uterine leiomyomata with
classic histological features < 40 years OR
c. Cutaneous leiomyomata AND one first / second / third degree relative with renal tumour, OR
d. Cutaneous leiomyomata AND two first / second / third degree relatives with cutaneous
leiomyomata OR uterine leiomyomata with classic histological features < 40 years, OR
e. Uterine leiomyomata with classic histological features (age <40) OR
f. Multiple cutaneous leiomyomata
2. Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing
NOTE: Cutaneous leiomyomata should be histologically confirmed; uterine leiomyomata and renal tumours should be medically documented
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Commissioning group
Specialised
Overlapping idications
• M18 Renal cell carcinoma or the associated pediatric cancer clinical indication (M173, M180, M165, M212) should be used for somatic testing
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
Rare Disese WGS Clinician pack
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