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
SYNNOVIS ANALYTICS MOLECULAR PATHOLOGY LABORATORY
Molecular Pathology c/o Central Specimen Reception,
Blood Sciences Laboratory,
Ground Floor Bessemer Wing,
King’s College Hospital,
Denmark Hill,
London,
SE5 9RS
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
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