Request / Find a Test Tool

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.

Aplastic Anaemia

Clinical Indication ID & Name

M83

Aplastic Anaemia

Test Group

Haematology

Specialties

Test code

M83.1

Test name

Karyotype (Genomewide)

Target genes

Genomewide

Test scope

Copy number variant detection to genomewide resolution; Structural variant detection

Test method/ technology

Karyotype or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Known or suspected aplastic anaemia

Test code

M83.3

Test name

FISH copy number and rearrangement

Target genes

As appropriate

Test scope

Copy number variant detection to genomewide resolution; Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Known or suspected aplastic anaemia

Test code

M83.4

Test name

WGS Germline and Tumour

Target genes

All including burden / signature

Test scope

All variant types

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Paediatric cases only

Commissioning group

n/a

Overlapping idications

n/a

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

rmh-tr.moleculardiagnostics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

n/a

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form