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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

R258

Cytopenia - Fanconi breakage testing indicated

Test Group

Haematology

Specialties

Clinical Genetics Haematology Immunology

Test code

R258.1

Test name

Cytopenia - Fanconi breakage testing indicated

Target genes

Fanconi breakage

Test scope

n/a

Test method/ technology

DNA repair defect testing

Optimal Family Structure

n/a

Eligibility Criteria

Persistent or recurrent bicytopenia or pancytopenia where exclusion of Fanconi anaemia by chromosome breakage testing is clinically indicated

Test code

R258.2

Test name

N/A

Target genes

Confirmed Fanconi anaemia or Bloom syndrome (508)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Persistent or recurrent bicytopenia or pancytopenia where exclusion of Fanconi anaemia by chromosome breakage testing is clinically indicated

Test code

R258.3

Test name

N/A

Target genes

Confirmed Fanconi anaemia or Bloom syndrome (508)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Persistent or recurrent bicytopenia or pancytopenia where exclusion of Fanconi anaemia by chromosome breakage testing is clinically indicated

Commissioning group

Specialised

Overlapping idications

• R91 Cytopenia - NOT Fanconi anaemia test should be used where exclusion of Fanconi anaemia by chromosome breakage testing is not clinically indicated

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.viapathgeneticsadmin@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

Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Peripheral blood in a lithium heparin bottle, 5ml (2ml from babies). Amniotic fluid and solid tissue specimens in a dry sterile container (20ml), CVS (20mg please discuss with the laboratory). Cultured fibroblast cells are also accepted. Storage, sample packing and transportation: Samples should arrive within 72 hours (preferably 24 hours) of sampling. For prenatal diagnosis please discuss with the laboratory before sending any samples. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Do not spin down or freeze samples before sending.