Clinical Indication ID & Name
Cytopenia - Fanconi breakage testing indicated
Test Group
Haematology
Specialties
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form