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EmbryoGenome is an advanced 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)
REDEFINING EMBRYO SCREENING
EmbryoGenome represents a groundbreaking advancement in embryo screening, surpassing the limitations of traditional preimplantation genetic testing for aneuploidy (PGT-A), which focuses solely on chromosomal analysis. This state-of-the-art test integrates PGT-A, PGT-M, and PGT-SR into a single, comprehensive screening platform. By using whole-exome sequencing (WES), EmbryoGenome provides unparalleled insight into embryo genetics.
UNPARALLELED INSIGHTS
COMPARED TO STANDARD PGT
THE TESTING PROCESS
EmbryoGenome usually requires couples to undergo in vitro fertilization (IVF) treatment. 1 This process begins with hormonal stimulation to enable the collection of multiple eggs from the mother. The eggs are then fertilized using the father’s sperm, and the resulting embryos are cultured in an incubator. Once the embryos reach the blastocyst stage 2 a trophectoderm biopsy 3 is performed to retrieve embryonic cells. The embryos are then cryopreserved 4 while awaiting test results. EmbryoGenome analyzes the DNA of each embryo, 5 identifying those unaffected by genetic or chromosomal abnormalities. 6 These selected embryos can then be transferred to the womb. 7 for implantation.
CUTTING-EDGE TECHNOLOGY BEHIND
The groundbreaking deep Whole Exome Sequencing technology, combined with advanced bioinformatic analysis powered by a proprietary algorithm, enables the precise detection of DNA mutations in embryos causing hundreds of severe inherited or de novo genetic diseases. In addition to genetic mutation analysis, EmbryoGenome provides a comprehensive evaluation of the embryonic karyotype. This includes detecting aneuploidies, segmental chromosomal imbalances, and microdeletion/microduplication syndromes—all in a single test. Leveraging state-of-the-art Next Generation Sequencing (NGS) technology, EmbryoGenome screens over 20.000 genes through whole exome sequencing. This cutting edge methodology delivers the most comprehensive insights currently available in PGT.
CLINICALLY VALIDATED APPROACH
GENOMICA's researchers conducted an extensive validation for whole exome sequencing-based PGT (PGT-WES).The validation included a prospective, double-blind study comparing PGT-WES with conventional PGT methods EmbryoGenome has demonstrated high accuracy in detecting inherited and de novo pathogenic variants, aneuploidy, and microdeletion/microduplication syndromes on standard trophectoderm biopsies of preimplantation embryos, providing unparalleled insights into embryo genetics.
INDICATION FOR TESTING
While EmbryoGenome is beneficial for all patients, certain groups may find it particularly advantageous:
- Couples with a family history of genetic disorder or chromosomal abnormality;
- Couples seeking to minimize reproductive risks;
- Patients using donor gametes or embryos;
- Patients Using Assisted Reproductive Technologies (ART) combined with preimplantation genetic testing (PGT);
- Patients concerned about de novo variants: This includes individuals of advanced paternal age or those who have had a previous child affected by a de novo genetic variant.
While EmbryoGenome is beneficial for all patients, certain groups may find it particularly advantageous:
Couples with a family history of genetic disorder or chromosomal abnormality;
Couples seeking to minimize reproductive risks;
Patients using donor gametes or embryos;
Patients Using Assisted Reproductive Technologies (ART) combined withpreimplantation genetic testing (PGT);
Patients concerned about de novo variants: This includes individuals of advancedpaternal age or those who have had a previous child affected by a de novo geneticvariant..
COLLABORATING WITH US
The collaboration process with GENOMICA is designed to be efficient and straightforward.
After an initial orientation, clinicians can easily order EmbryoGenome, with all shipping logistics expertly managed.
Using thesame 6-8 cell trophectoderm biopsy, EmbryoGenome delivers comprehensive results, accompanied by individualized reporting and consultation to support clinical decision-making.
Quick and easy ordering
Order EmbryoGenome test efficiently, without any added work.
GENOMICA handles shipping logistics for all samples.
Samples required and turnaround times
WHY CHOOSE
GENOMICA is recognized as one of the most advanced molecular diagnostics laboratory in Europe, both for the state-of-the-art instruments and technologies, as well as for its high quality standards. With a comprehensive portfolio of over 10.000 genetic tests, GENOMICA is able to satisfy increasingly specialised requests in the field of molecular genetics, providing physicians and their patients with innovative and highly specialised diagnostic solutions for any clinical need.
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