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.

Severe microcephaly

Clinical Indication ID & Name

R88

Severe microcephaly

Test Group

Neurology

Specialties

Clinical Genetics Neurology Paediatrics

Test code

R88.2

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Microarray

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with severe microcephaly* of likely monogenic aetiology
*Severe microcephaly is defined as having an occipitofrontal circumference (OFC) beyond 3 standard deviations below the mean for age

Test code

R88.3

Test name

N/A

Target genes

Severe microcephaly (162)

Test scope

n/a

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with severe microcephaly* of likely monogenic aetiology
*Severe microcephaly is defined as having an occipitofrontal circumference (OFC) beyond 3 standard deviations below the mean for age

Commissioning group

Specialised

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD WGS request form RD WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form