Clinical Indication ID & Name
Rare anaemia
Test Group
Haematology
Specialties
Test code
R92.1
Test name
N/A
Target genes
HBA1; HBA2; HBG1; HBG2; HBB; RPL11;RPL35A;RPS17;RPS19;RPS26;RPL5;PKLR
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Rare anaemias of likely monogenic aetiology
Test code
R92.2
Test name
N/A
Target genes
HBA1; HBA2; HBG1; HBG2; HBB
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Rare anaemias of likely monogenic aetiology
Test code
R92.3
Test name
N/A
Target genes
Rare anaemia (518)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Rare anaemias of likely monogenic aetiology
Commissioning group
Specialised
Overlapping idications
R93 Thalassaemia test should be used where the diagnosis is likely to be thalassaemia R94 HbSS sickle cell disease test should be used where the diagnosis is likely to be HbSS sickle cell disease • 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
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