Expansion of the Diagnostic Panel for Fertility

November 15, 2022

The Diagnostic Panel for Fertility has been expanded by 68 genes and now includes 203 genes associated with a genetic fertility disorder. Three gene sets have been newly integrated. Thus, the panel can also diagnose hereditary asthenozoospermia or clarify unintended childlessness without a clear indication. In addition, the existing gene sets were extensively reorganized in terms of content, and the composition was revised based on the current data situation.

We have developed a new gene set for the diagnosis of hereditary asthenozoospermia. This gene set (FER14) contains 31 genes in which alterations are causative for impaired sperm motility.

To facilitate the clinical usability of the Diagnostic Panel for couples with an unfulfilled desire to have children, two additional overlapping gene sets are now available to clarify infertility without indicative preliminary findings.

The gene sets for Primary Ovarian Insufficiency|POI (FER01) and Premature Ovarian Insufficiency|POF (FER02) have been merged and are now requestable as Ovarian Insufficiency (FER02), as a clear delineation is often difficult in clinical practice.
Analysis based on in-house exome enrichment

The Diagnostic Panel for Fertility is based on exome sequencing with CeGaT ExomeXtra®. CeGaT ExomeXtra® covers all protein-coding regions as well as all known pathogenic intronic and intergenic variants. It thus provides the best basis for genetic diagnostics.

Further information on our Fertility Diagnostic Panel can be found here:

We would be happy to support you in selecting the most targeted diagnostic strategy for your patients. Call us a+49 (0) 7071 565 44 55 or send us an e-mail at diagnostic-support@cegat.com.