WES panel “Male infertility” March 2023As of March 1st, 2023, we are the first genome diagnostic laboratory in the world to offer a diagnostic WES panel for male infertility.
The gene panel consists of 130 genes and includes panel-wide CNV analysis, including analysis of the AZF regions on the Y chromosome. With this test, the most common causes of male infertility can be detected: AZF deletions on the Y-chromosome, (non-mosaic) sex chromosomal aberrations (e.g. Klinefelter syndrome, idic(Y), XX-male), and variants in the CFTR gene (in case of CBAVD). Next to these, monogenetic causes of azoöspermia, servere oligozoöspermia, OAT, MMAF, globozoöspermia, etc. are examined.
For detection of balanced translocations and (low-grade) mosaic sex chromosomal aberrations, karyotyping remains necessary, as these cannot be detected with exome sequencing.
More information about this test
Prices updated! June 2019
Recently we have updated the prices on our website for all our services.
A couple of significant changes regarding Exome sequencing diagnostics are:
- Single exome analysis: €990
- Trio exome analysis: €2000
- (NEW) Rapid trio exome analysis: €4000
- Reanalysis / open exome: €400