Cytogenetic Investigations for Infertility - Sex Chromosome Aneuploidy

Aneuploidy for the X and Y chromosomes can be investigated using Quantitative fluorescence PCR (QF-PCR). This test will detect Klinefelter syndrome and Turner syndrome. When chromosome aneuploidy is detected further analysis of cultured cells may performed by G-banded chromosome analysis where considered appropriate.

- QF-PCR - is a very cost effective test to confirm or exclude Klinefelter syndrome, with a reporting time of 3 working days
- G-banded chromosome analysis (karyotyping) - for detection of balanced chromosome rearrangements that may disrupt gamete production
- Y-chromosome micro-deletion testing - responsible for up to 10% of male infertility
- CFTR mutation testing is available for males with congenital absence of the vas deferens or unexplained obstructive azoospermia
Synonyms or keywords: 
Karyotyping. G-banded chromosome analysis. Chromosomes.
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:

  • R26 Likely common aneuploidy

Include the relevant R code (above) on the referral form; for further details and the eligibility criteria for testing please see

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

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Last updated: 26/04/2022