Clinical Indication ID & Name
Cytopenia - NOT Fanconi anaemia
Test Group
Haematology
Specialties
Test code
R91.1
Test name
N/A
Target genes
Cytopenia - NOT Fanconi anaemia (519)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Persistent or recurrent cytopenia or pancytopenia of unknown cause where Fanconi anaemia is unlikely.
This includes unexplained isolated aplastic anaemia, thrombocytopenia or neutropenia
Test code
R91.2
Test name
N/A
Target genes
RPL11;RPL35A;RPS17;RPS19;RPS26;RPL5;DKC1;TERT;TERC
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Persistent or recurrent cytopenia or pancytopenia of unknown cause where Fanconi anaemia is unlikely.
This includes unexplained isolated aplastic anaemia, thrombocytopenia or neutropenia
Commissioning group
Specialised
Overlapping idications
• R258 Cytopenia – Fanconi breakage testing indicated should be used where exclusion of Fanconi anaemia using chromosome breakage testing is clinically indicated • R313 Neutropaenia consistent with ELANE mutations test should be used in cases of neutropaenia where ELANE mutations are plausible and have not been excluded • R27 Congenital malformation and dysmorphism syndromes - likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations
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