Clinical Indication ID & Name
Y chromosome microdeletion
Test Group
Core
Specialties
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
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form