Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Fumarate hydratase-related tumour syndromes

Clinical Indication ID & Name


Fumarate hydratase-related tumour syndromes

Test Group

Inherited cancer

Test code


Test name


Target genes


Test scope


Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure


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


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


Education resources


Service updates


Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form