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.

Segmental overgrowth disorders – Deep sequencing

Clinical Indication ID & Name

R110

Segmental overgrowth disorders - Deep sequencing

Test Group

Dermatology

Specialties

Clinical Genetics Dermatology Surgery

Test code

R110.1

Test name

N/A

Target genes

Segmental overgrowth disorders (98)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of a segmental overgrowth disorder. Features may include:
1. Congenital or early onset segmental overgrowth (which may affect the brain only, i.e. megalencephaly)
2. Confirmed Vascular malformations (capillary, venous, lymphatic or combinations) following discussion with a specialist
3. Characteristic cutaneous features (for example epidermal naevi or connective tissue naevi)
4. Brain malformations (for example hydrocephalus or cortical malformations)
5. Additional dysmorphism (for example polydactyly)

Test code

R110.2

Test name

N/A

Target genes

Segmental overgrowth disorders (98)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of a segmental overgrowth disorder. Features may include:
1. Congenital or early onset segmental overgrowth (which may affect the brain only, i.e. megalencephaly)
2. Confirmed Vascular malformations (capillary, venous, lymphatic or combinations) following discussion with a specialist
3. Characteristic cutaneous features (for example epidermal naevi or connective tissue naevi)
4. Brain malformations (for example hydrocephalus or cortical malformations)
5. Additional dysmorphism (for example polydactyly)

Commissioning group

Specialised

Overlapping idications

R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be considered in overlapping features are present but germline mutation is considered likely

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