Clinical Indication ID & Name
Confirmed Fanconi anaemia or Bloom syndrome - mutation testing
Test Group
Haematology
Specialties
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
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
Rare Disese WGS Clinician pack
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