Order or find a test

Please continue to use the test directory below. The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Synnovis strike action: see news page for more details https://southeastgenomics.nhs.uk/synnovis-industrial-strike-action-16th-dec-20th-dec-inclusive/

Clinical Indication ID & Name

R93

Thalassaemia and other haemoglobinopathies

Test Group

Haematology

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

kch-tr.pnd@nhs.net

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/

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