Clinical Indication ID & Name
Fanconi anaemia or Bloom syndrome - chromosome breakage testing
Test Group
Haematology
Specialties
Test code
R260.1
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
1. Molecular findings suggestive of Fanconi anaemia or Bloom syndrome from genome, exome or other genomic analysis, OR
2. Clinical features strongly suggestive of Fanconi anaemia or Bloom syndrome
Commissioning group
Specialised
Overlapping idications
R258 Cytopenia – Fanconi breakage testing indicated should be used instead where testing is based on haematological clinical features • 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 • Prenatal diagnosis or cascade testing by chromosome breakage testing will be requested via R240 Diagnostic testing for known familial mutation(s)
Address for samples/request forms
Molecular Haemostasis & Thrombosis
4th Floor North Wing
St. Thomas’ Hospital
London SE1 7EH
Contact with queries
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
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