Cytogenetic Investigations for Infertility - Sex Chromosome Aneuploidy
Description:
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.
Infertility:
- 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
Infertility:
- 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.
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
- 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 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.
Laboratory:
Last updated: 26/10/2023
