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.

Clinical Indication ID & Name

R77

Hereditary neuropathy - PMP22 copy number

Test Group

Core

Specialties

Clinical Genetics Neurology Paediatrics

Test code

R77.1

Test name

N/A

Target genes

PMP22

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Hereditary neuropathy where PMP22 copy number abnormalities are possible

Commissioning group

Core

Overlapping idications

• R78 Hereditary neuropathy or pain disorder – NOT PMP22 copy number test should be used where PMP22 copy number abnormalities are clinically unlikely or have already been excluded • R89 Ultra-rare and atypical monogenic disorders or R27 Congenital malformation and dysmorphism syndromes – likely monogenic tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations

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

Request / Find a Test Tool