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Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R361

Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing

Test Group

Haematology

Specialties

Clinical Genetics Haematology

Test code

R361.1

Test name

N/A

Target genes

HBA1; HBA2; HBG1; HBG2; HBB (1342)

Test scope

Small variants

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 based on initial protein testing or red cell indices

Test code

R361.2

Test name

N/A

Target genes

HBA1; HBA2; HBG1; HBG2; HBB (1342)

Test scope

Exon level CNVs

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 based on initial protein testing or red cell indices

Commissioning group

Specialised

Overlapping idications

• R93 Sickle cell, thalassaemia and other haemoglobinopathies test should be used in individuals who are likely to be affected with a haemoglobinopathy Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family

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/

Request form download

Molecular Pathology Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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