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

R236

Pigmentary skin disorders

Test Group

Dermatology

Specialties

Clinical Genetics Dermatology

Test code

R236.1

Test name

N/A

Target genes

Pigmentary skin disorders (559)

Test scope

n/a

Test method/ technology

WES or Large Panel

Optimal Family Structure

n/a

Eligibility Criteria

1. Multiple café-au-lait macules where neurofibromatosis type 1 (NF1) has been excluded either clinically or on genetic testing, OR
2. Poikiloderma with a likely genetic cause, OR
3. Other forms of reticulate, patchy or speckled hypo- or hyperpigmentation with a likely genetic cause

Test code

R236.2

Test name

N/A

Target genes

SPRED1

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Multiple café-au-lait macules where neurofibromatosis type 1 (NF1) has been excluded either clinically or on genetic testing, OR
2. Poikiloderma with a likely genetic cause, OR
3. Other forms of reticulate, patchy or speckled hypo- or hyperpigmentation with a likely genetic cause

Commissioning group

Specialised

Overlapping idications

• R222 Neurofibromatosis type 1 test should be used where features are typical of this condition • R343 Chromosomal mosaicism – microarray test should be used where this is the likely diagnosis • R327 Mosaic skin disorders – deep sequencing test should be used where the likely cause is a mosaic genetic change, as the technology applied to the mosaic disorders will be more sensitive to these than the panel test designed to detect germline disorders

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/

Request form download

Dermatology 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