Clinical Indication ID & Name
Thalassaemia and other haemoglobinopathies
Test Group
Haematology
Specialties
Test code
R93.1
Test name
N/A
Target genes
HBA1;HBB
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features indicative of likely thalassaemia or other clinically significant haemoglobinopathy
Test code
R93.2
Test name
N/A
Target genes
HBA1;HBB
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features indicative of likely thalassaemia or other clinically significant haemoglobinopathy
Commissioning group
Specialised
Overlapping idications
• R92 Rare anaemia test should be used in individuals with atypical features in whom other diagnoses are likely • R361 Carrier testing for haemoglobinopathy test should be used in individuals who are likely to be carriers of a haemoglobinopathy or haemoglobinopathy trait
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