Reproductive Genetics

An advanced preimplantation genetic test that, using Next generation Sequencing (NGS) technique, screens multiple genes to detect mutations causing severe inherited and de novo genetic disorders in embryos. EMBRYOTEST is a complement to Genomica's market-leading PGTADVANCE test, which screens embryos for aneuploidies and segmental chromosome imbalances, as well as for gene mutations causing Mendelian genetic diseases.

An advanced carrier screening test which, using next generation DNA sequencing techniques (Next Generation Sequencing - NGS), allows identification of couples at risk of transmitting the most common genetic diseases to their children, detecting DNA mutations carried by one or both parents.

A line of advanced tests aimed at providing information on the health status of the vaginal canal in relation to possible dysbiosis, underlying infections and reproductive failures related to the composition of the vaginal microbiota. The purpose of the test is to restore the health of the vaginal canal, identifying the presence of any unfavorable microenvironment.

An advanced test that investigates the endometrial microbiome, establishing the optimal uterine microbial environment for embryonic implantation, thus improving the chances of pregnancy in couples with history of reproductive failures

An innovative genetic test that assesses the endometrial receptivity with the use of transcriptomics techniques and allows accurate determination of the optimal timing in the endometrial cycle to perform embryo transfer, identifying the proper "window of implantation".

An advanced genetic test that, using NGS sequencing techniques of the investigated genes, allows identification of the genetic causes of male and female infertility.

Analysis of sperm chromosomal abnormalities to study the genetic etiology of male infertility for the study of male infertility. It allows for the evaluation of the presence of an abnormal number of chromosomes (aneuploidy and diploidy) in the sperm using the fluorescent in situ hybridization (FISH) technique. It analyzes the chromosomes that are frequently implicated in spontaneous miscarriages and the chromosomes that can lead to children affected with syndromes, like Down syndrome. (chromosomes 13, 18, 21, X and Y).

An advanced molecular test that, using the latest generation sequencing technologies (Next Generation Sequencing - NGS), analyze the karyotype of product of conception (POC), to determine if the miscarriage was the result of a chromosomal aneuploidy. This test can provide important information about the possible causes of your patient’s miscarriage and help you determine the next steps for their fertility treatment.
POCAdvance Tissue test analyzes fetal tissues collected after resection of from the uterine cavity;
POCAdvance CfDNA test analyzes circulating cell- free fetal DNA (cfDNA) in maternal blood.

The genetic test is useful to confirm the suspected diagnosis of hereditary thrombophilia, to perform a differential diagnosis with other conditions, to evaluate the risk of recurrence in the event of a thrombotic occurrence; to diagnose asymptomatic forms in families with a known mutation.

A line of latest generation pre-implantation genetic tests (PGT) that allows detection of genetic diseases or numerical (aneuploidy) or structural (chromosomal imbalances) chromosomal alterations in preimplantation embryos, generated in vitro by couples at high reproductive risk. A cutting-edge test that offers a full panel of screening options:
• Preimplantation genetic testing for chromosomal aneuploidy (PGT-A): A genetic test designed to identify chromosomal aneuploidy in embryos using Next-Generation Sequencing (NGS);
• Preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR): A genetic test designed to detect structural chromosomal imbalances in the embryonic DNA (eg. unbalanced translocations, deletions, duplications, etc.) using the Next-Generation Sequencing (NGS) technique;
• Preimplantation genetic testing for monogenic disorders (PGT-M): A genetic test designed to identify in embryos gene mutations causing genetic disorders (eg Cystic fibrosis, Beta Thalassemia, etc).

PGTAdvance Plus is an evolution of PGTAdvance, our latest generation pre-implantation genetic tests (PGT) aimed at identifying genetic diseases and numerical (aneuploidy) or structural (eg. unbalanced translocations, deletions, duplications, etc.) chromosomal abnormalities in embryos, before their transfer to the uterus. This advanced screening solution goes beyond PGTAdvance test, by incorporating the Next Generation Sequencing (NGS) analysis of numerous variants in the embryonic DNA sequence, known as single nucleotide polymorphisms (SNPs). SNPs are changes in single nucleotides distributed throughout the genome and frequently vary at the same genomic position between individuals. Combining next-generation sequencing (NGS) with advanced algorithms and machine learning, significantly enhances the accuracy and confidence in selecting the optimal embryo for transfer by incorporating additional features into a standard PGT-A workflow.

A pioneering non-invasive pre-implantation genetic test developed by GENOMICA that allows identification of embryos with a higher probability of euploidy, and therefore with a higher implantation potential, by analyzing the cell-free embryonic DNA in spent culture media. The test assigns the embryos a degree of priority for transfer to the uterus, based on information on the chromosome copy number of the embryos. This information may be used for selecting optimal embryo to prioritize and transfer first in an IVF cycle, thus maximizing the chances of success of the IVF treatments