Order or find a test

Please continue to use the test directory below. The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Synnovis strike action: see news page for more details https://southeastgenomics.nhs.uk/synnovis-industrial-strike-action-16th-dec-20th-dec-inclusive/

Clinical Indication ID & Name

R163

Ectodermal dysplasia

Test Group

Dermatology

Test code

R163.1

Test name

N/A

Target genes

Ectodermal dysplasia (553)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with a clinical diagnosis of ectodermal dysplasia who have one or more of:
1. Abnormalities of hair (hypotrichosis, sparse hair, sparse/missing eyebrows)
2. Abnormalities of teeth (hypodontia, conical incisors)
3. Abnormalities of skin (hypohidrosis, episodes of hyperthermia)

Test code

R163.2

Test name

N/A

Target genes

Ectodermal dysplasia (553)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with a clinical diagnosis of ectodermal dysplasia who have one or more of:
1. Abnormalities of hair (hypotrichosis, sparse hair, sparse/missing eyebrows)
2. Abnormalities of teeth (hypodontia, conical incisors)
3. Abnormalities of skin (hypohidrosis, episodes of hyperthermia)

Commissioning group

Specialised

Overlapping idications

n/a

Address for samples/request forms

Witihin working hours:
South East GLH
Genetics Specimen Reception
5th floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Outside of working hours:
Central Specimen Reception
4th floor Southwark Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst.tr-southeastglh.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/

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