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

R92

Rare anaemia

Test Group

Haematology

Specialties

Clinical Genetics Haematology

Test code

R92.1

Test name

N/A

Target genes

HBA1; HBA2; HBG1; HBG2; HBB; RPL11;RPL35A;RPS17;RPS19;RPS26;RPL5;PKLR

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Rare anaemias of likely monogenic aetiology

Test code

R92.2

Test name

N/A

Target genes

HBA1; HBA2; HBG1; HBG2; HBB

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Rare anaemias of likely monogenic aetiology

Test code

R92.3

Test name

N/A

Target genes

Rare anaemia (518)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Rare anaemias of likely monogenic aetiology

Commissioning group

Specialised

Overlapping idications

R93 Thalassaemia test should be used where the diagnosis is likely to be thalassaemia R94 HbSS sickle cell disease test should be used where the diagnosis is likely to be HbSS sickle cell disease • R27 Congenital malformation and dysmorphism syndromes - likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations

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

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