Dear Colleague,
we are pleased to introduce CarrierAdvance Exome Infertility, the most advanced genetic diagnostic solution currently available for the clinical management of couples with reproductive difficulties.

A single analysis that integrates four key clinical dimensions, streamlining the diagnostic pathway and supporting personalized assisted reproduction (ART) strategies.




Couple infertility affects approximately 15% of the reproductive-age population. Genetic factors account for a substantial proportion of cases — up to 15% in male infertility and 10% in female infertility —while about 20% of cases remain idiopathic even after a comprehensive diagnostic work-up.

CarrierAdvance Exome Infertility addresses this clinical challenge with an integrated, multidimensional approach based on state-of-the-art Clinical Exome Sequencing, enabling improved etiological assessment, stronger reproductive counseling, and more personalized ART pathways.





01. Expanded Carrier Screening
Clinical Exome Sequencing:
📍Clinical exome sequencing of 7,000+ genes associated with Mendelian disorders.
📍Identification of the risk of transmitting genetic conditions to offspring, often in the absence of a positive family history.

02. Couple Infertility Genetics
📍Diagnostic assessment of the main genetic causes of male and female infertility.
📍Support for defining personalized clinical strategies.

03. TESE Prognosis in NOA
📍Estimation of the likelihood of sperm retrieval in non-obstructive azoospermia (NOA).
📍Prognostic stratification TESE+/TESE− to support targeted clinical decision-making

04. Predisposition to Embryonic Aneuploidy
📍Assessment of the risk of meiotic and post-zygotic mitotic errors.
📍Particularly useful in complex clinical scenarios (e.g., repeated implantation failure, recurrent pregnancy loss, high rates of aneuploid embryos at PGT-A).

Clinical objective:: to improve diagnosis, counseling, and personalization of reproductive pathways by integrating genetic information with clinical phenotype and laboratory findings.




The test is based on next-generation Clinical Exome Sequencing (NGS), with sequencing of the entire coding region of approximately 7,000 genes. An advanced bioinformatics pipeline enables detection of SNVs, indels, and CNVs within the investigated regions.

Key platform advantages
📍 No predefined mutation set: detection of any variant within the sequenced regions
📍 Variant classification according to ACMG/AMP guidelines
📍 Preferably performed on both partners to maximize the clinical value of couple-based analysis




The test is recommended in the following clinical settings:
📍 ART pregnancy planning (preferred indication for the couple)
📍 Idiopathic couple infertility
📍 Donor conception: genetic matching of donor/partner
📍 Known or suspected family history of genetic disease
📍 Non-obstructive azoospermia (NOA): pre-TESE evaluation and post-negative TESE assessment
📍 Recurrent pregnancy loss (RPL) and repeated implantation failure (RIF)
📍 High proportion of aneuploid embryos at PGT-A, especially if unexpected for maternal age
📍 PGT-A patterns suggestive of meiotic or mitotic errors.






Download the CarrierAdvanceExome Infertility Brochure
informational brochure by clicking on the image above

For more information about CarrierAdvanceExome Infertility, please visit the monothematic website or contact our team of geneticists. Our Scientific & Commercial Representative is available to discuss operational aspects and collaboration opportunities to integrate the test into clinical practice. If you would like to receive a collaboration proposal or be connected with our local Scientific & Commercial Representative, please write to us:

Contact Genomica

We look forward to sharing the most advanced and innovative diagnostic solutions in genetics. Kind regards,

GENOMICA srl
Marketing & Communication Department