›
›

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.

Y chromosome microdeletion

Clinical Indication ID & Name

R411

Y chromosome microdeletion

Test Group

Core

Specialties

Clinical Genetics Urology Gynaecology

Test code

R411.1

Test name

N/A

Target genes

Y chromosome AZF regions

Test scope

n/a

Test method/ technology

Targeted variant 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

Please refer to the test request form.

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

Download test request forms

Consent record

See consent guidance in test request form

Sample requirements

Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old Sample Storage and Volume Required: 5ml of peripheral blood in a lithium heparin bottle Storage, sample packing and transportation: Samples should arrive within 72 hours (preferably 24 hours) of sampling. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Do not spin down or freeze samples before sending.