EMBRYOGENOME is a cutting-edge preimplantation genetic test that screens the whole coding genome (exome) of IVF embryos, enabling the simultaneous detection of:

✔ Mutations causing ~7,000 clinically recognized severe genetic disorders, including inherited and de novo conditions;
✔ Numerical chromosomal abnormalities (Aneuploidy);
✔ Triploidy/Haploidy and uniparental disomy (UPD);
✔ Chromosomal mosaicism;
✔ Segmental chromosomal imbalances (deletions/duplications);
✔ 130+ Microdeletion/microduplication syndromes;
✔ Copy number variants (CNVs) > 200 Kb.

All this is provided in a single test.

EMBRYOGENOME represents a groundbreaking advancement in embryo screening, surpassing the limitations of traditional preimplantation genetic testing for aneuploidy (PGT-A), which, due to their low resolution, are limited to identifying fetal chromosomal aneuploidies and structural chromosomal abnormalities. Standard PGT screening may miss unexpected genetic diseases. This state-of-the-art test integrates PGT-A, PGT-M, and PGT-SR into a single screening test, providing advanced and comprehensive analysis to detect conditions that current PGT tests may overlook. By using whole-exome sequencing (WES), EMBRYOGENOME sets a new standard in embryo screening, combining accuracy, comprehensiveness, and innovation to deliver the most advanced insights into embryo genetics. No other PGT can provide such a comprehensive level of embryo-related information.

EMBRYOGENOME uses the advanced deep Whole Exome Sequencing (WES) technology, covering over 20,000 genes, combined with advanced bioinformatic analysis powered by a proprietary algorithm.

Resolution refers to the sequencing depth (or coverage) of the test. This is a crucial feature since higher coverage ensures greater reliability of results and improved test performance.
Traditional PGT tests use very low sequencing depth (coverage 0.1X). This results in minimal coverage of genetic regions and restricts the test's focus to identifying only chromosomal abnormalities.
In contrast, EMBRYOGENOME employs deep sequencing technology (coverage >200X) to ensure complete coverage of coding regions in the embryo genome. This resolution, thousands of times higher than that of traditional PGT, enables the detection of a broad spectrum of genetic and chromosomal abnormalities with unprecedented reliability and much improved performance.

A prospective double-blind study conducted by the GENOMICA R&D team compared the results of the EMBRYOGENOME test with those of traditional PGT tests. By analyzing embryonic DNA obtained from standard trophectoderm biopsies, the study demonstrated high accuracy in detecting inherited and de novo pathogenic variants, aneuploidies, and microdeletion or microduplication syndromes. Moreover, the test enabled the identification of genetic diseases and chromosomal abnormalities that traditional PGT tests failed to detect, leading to a significant increase in the detection rate.

Download the EMBRYOGENOME informational Brochure
by clicking on the image above


More information on EMBRYOGENOME can be found on the dedicated website www.embryogenome.it or by contacting our team of geneticists.
Our Sales Department is available to provide further details on the test's operational procedures and to explore collaboration opportunities with Genomica lab to integrate the test into clinical practice.

If you are interested in receiving more information on EMBRYOGENOME, we invite you to write to us:

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We look forward to sharing the most advanced and innovative diagnostic solutions in the field of genetics.

GENOMICA srl
Marketing and Communication Department