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

N/A

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

Molecular Haemostasis & Thrombosis
4th Floor North Wing
St. Thomas’ Hospital
London SE1 7EH

Contact with queries

viapath.mol.haem@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

Haemostasis and Thrombosis 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