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.

Mosaic skin disorders – deep sequencing

Clinical Indication ID & Name

R327

Mosaic skin disorders - deep sequencing

Test Group

Dermatology

Specialties

Clinical Genetics Dermatology

Test code

R327.1

Test name

N/A

Target genes

Mosaic skin disorders - deep sequencing (564)

Test scope

n/a

Test method/ technology

Medium panel

Optimal Family Structure

n/a

Eligibility Criteria

Dermatological abnormality likely to have a mosaic single gene cause

Test code

R327.2

Test name

N/A

Target genes

Mosaic skin disorders - deep sequencing (564)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Dermatological abnormality likely to have a mosaic single gene cause

Commissioning group

Specialised

Overlapping idications

• R110 Segmental overgrowth disorders test should be used where relevant • R343 Chromosomal mosaicism – microarray test should be used where a microarray is required

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

n/a

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