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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Clinical Indication ID & Name

R94

HbSS sickle cell anaemia

Test Group

Haematology

Specialties

Clinical Genetics Fetal Medicine Haematology Obstetrics Paediatrics

Test code

R94.1

Test name

N/A

Target genes

HbS variant

Test scope

n/a

Test method/ technology

Targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Likely HbSS sickle cell anaemia on haemoglobin electrophoresis

Commissioning group

Specialised

Overlapping idications

• R93 Thalassaemia and other haemoglobinopathies should be used where there is a suspicion of other forms of sickle cell disease (e.g. Hb SC, sickle beta thalassaemia) or S/HPFH. • R92 Rare anaemia test should be used in individuals with atypical features in whom other diagnoses are likely • R362 Carrier testing for sickle cell anaemia test should be used in individuals who are suspected to be carriers

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form

Request / Find a Test Tool