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
Please refer to the test request form.
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
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Peripheral blood in a lithium heparin bottle, 5ml (2ml from babies). Amniotic fluid and solid tissue specimens in a dry sterile container (20ml), CVS (20mg please discuss with the laboratory). Cultured fibroblast cells are also accepted. Storage, sample packing and transportation: Samples should arrive within 72 hours (preferably 24 hours) of sampling. For prenatal diagnosis please discuss with the laboratory before sending any samples. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Do not spin down or freeze samples before sending.