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

R298

Possible structural or mosaic chromosomal abnormality - FISH

Test Group

Core

Specialties

Clinical Genetics Genomics Laboratory

Test code

R298.1

Test name

N/A

Target genes

As determined by indication

Test scope

n/a

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Possible structural or mosaic chromosomal abnormality requiring FISH
Testing for Y chromosome microdeletions should not routinely be performed before ICSI
https://www.nice.org.uk/guidance/cg156/chapter/Recommendations

Commissioning group

Core

Overlapping idications

• R26 Likely common aneuploidy, test should be used for common aneuploidy testing, which may be delivered by FISH • R297 Possible structural chromosomal rearrangement – karyotype, is available where karyotype alone is required • R265 Chromosomal mosaicism – karyotype, is available where extended karyotype is required • R411 Y chromosome microdeletions is available where surgical sperm retrieval is considered

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