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

R265

Chromosomal mosaicism - karyotype

Test Group

Core

Specialties

Clinical Genetics Dermatology Genomics Laboratory

Test code

R265.1

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Karyotype

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with possible mosaic chromosome abnormality requiring extended count karyotype including:
1. possible mosaic chromosome abnormality indicated by findings from conventional karyotype, microarray, WGS or other laboratory technique, OR
2. clinical features strongly suggestive of a specific chromosomal phenotype, for example Down syndrome, in whom conventional testing is negative

Commissioning group

Core

Overlapping idications

• R343 Chromosomal mosaicism - microarray should be used where a microarray is indicated

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

Molecular, Cytogenetic, Neurogenetic and NIPD Test Request Form 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