Cytogenetic Investigations for Infertility - Y Chromosome Microdeletions

Description: 
Y chromosome microdeletions can be investigated using quantitative fluorescence PCR (QF-PCR).
Clinical details: 
Scientific studies have demonstrated that Y-chromosome microdeletions are responsible for up to 10% of male infertility.
Synonyms or keywords: 
Karyotyping, G-banded chromosome analysis, Chromosomes.
Department: 
Location: 
Sample type and Volume required: 
5ml of peripheral blood in a lithium heparin bottle
Turnaround time: 
42 days
Special sample instructions: 

Request form available at:  https://southeastgenomics.nhs.uk/wp-content/uploads/2023/08/SE-GLH-Non-WGS-Genetic-Test-Request-Form-August-2023-v1.5.pdf

  • R411 Y Chromosome microdeletions

Include the relevant R code (above) on the referral form; for further details and the eligibility criteria for testing please see https://www.england.nhs.uk/publication/national-genomic-test-directories/

Storage and transport: 
Samples should arrive within 72 hours (preferably 24 hours) of sampling.
Cost: 
On application
Time limit for extra tests: 
Do not spin down or freeze samples before sending.
Contacts:
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 26/10/2023