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The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R411

Y chromosome microdeletion

Test Group

Core

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Consent record

See consent guidance in test request form

Sample requirements

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