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

R411

Y chromosome microdeletion

Test Group

Core

Specialties

Clinical Genetics Urology

Test code

R411.1

Test name

N/A

Target genes

Y chromosome AZF regions

Test scope

n/a

Test method/ technology

Targeted mutation testing or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Patients with non-obstructive azoospermia or severe oligospermia where testicular sperm extraction (TESE)/microdissection TESE (mTESE) is considered and outcome of testing will inform eligibility for (m)TESE and success of sperm retrieval (https://www.england.nhs.uk/wp-content/uploads/2018/07/Surgicalsperm-retrieval-for-male-infertility.pdf)

Testing for Y chromosome microdeletions should not routinely be performed before ICSI
(https://www.nice.org.uk/guidance/cg156/chapter/Recommendations)

Testing for this clinical indication is performed by designated GLHs on behalf of the national genomic testing network

Commissioning group

Core

Overlapping idications

• R298 - Possible structural or mosaic chromosomal abnormality requiring FISH

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