Clinical Indication ID & Name
Haemoglobinopathy trait or carrier testing
Test Group
Haematology
Specialties
Test code
R361.1
Test name
N/A
Target genes
HBA1;HBB
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Individuals who are likely to have or carry a clinically significant haemoglobinopathy trait other than sickle cell disease based on initial protein testing or red cell indices
Test code
R361.2
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
Individuals who are likely to have or carry a clinically significant haemoglobinopathy trait other than sickle cell disease based on initial protein testing or red cell indices
Commissioning group
Specialised
Overlapping idications
• M91 Acute lymphoblastic leukaemia should be used for somatic testing
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