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

R229

Confirmed Fanconi anaemia or Bloom syndrome - mutation testing

Test Group

Haematology

Specialties

Clinical Genetics Haematology

Test code

R229.1

Test name

N/A

Target genes

Confirmed Fanconi anaemia or Bloom syndrome (508)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Confirmed diagnosis of Fanconi anaemia or Bloom syndrome from chromosome breakage analysis requiring mutation testing

Test code

R229.2

Test name

N/A

Target genes

FANCA;FANCB;FANCD2;PALB2

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Confirmed diagnosis of Fanconi anaemia or Bloom syndrome from chromosome breakage analysis requiring mutation testing

Commissioning group

Specialised

Overlapping idications

• R91 Cytopenia - NOT Fanconi anaemia test should be used where exclusion of Fanconi anaemia using chromosome breakage testing is clinically indicated • R260 Fanconi anaemia or Bloom syndrome - chromosome breakage testing test should be used instead where clinical features strongly suggestive of Fanconi anaemia or Bloom syndrome • In other cases where testing is based on clinical features, R27 Congenital malformation and dysmorphism syndromes – likely monogenic, R89 Ultra-rare and atypical monogenic disorders or other broad genomic tests should typically be used except where clinical features are strongly suggestive of Fanconi anaemia or Bloom syndrome

Address for samples/request forms

South East GLH
Genetics Specimen Reception
5th floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

kch-tr.pnd@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