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

R365

Fumarate hydratase-related tumour syndromes

Test Group

Inherited cancer

Specialties

Clinical Genetics Dermatology Urology Nephrology

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

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