Our methodology, rigorous.
Our test, universal.

In order to collect all the information you need to make better decisions for the future, we use a double technology that guarantees accurate and high-value results.

Next Generation Sequencing and
Deletion/Duplication Analysis

Sequencing reads the DNA code of one or more genes to determine the sequence of an individual. This is compared with a reference DNA sample and we thus detect any variant found in the patient’s sequence. Next generation sequencing (NGS) analyses exons in multiple genes simultaneously. In addition, we use a sophisticated method, CNVexon™, that detects sequence changes and deletions/duplications (del/dups) via NGS. The combination of both methods allows FullGenomics to offer the best coverage through cost-effective and highly accurate technology.

PCR (Polymerase Chain Reaction)

PCR amplification is used to detect the expansion of CGG repeats of the FMR1 gene. When the CGG repeat is expanded to a specific number, it can cause Fragile X syndrome. We can also detect AGG disruptions, which can lower the risk of expansion when inherited from the mother.

Our detection rate

The analytical detection rate of HERES for all genes is >99%. The clinical detection rate varies depending on the disease. Residual risk is the chance that the screened patient will be a carrier even after a negative result. To provide as much information as possible, we use an internal algorithm to calculate the residual risk of carrier couples.

Every laboratory test
has its limitations

A positive result does not imply that there are no other mutations in the patient’s genome.

Negative results do not eliminate the risk that the patient’s children will be affected by a genetic disorder.

HERES Carrier Screening is not designed to detect somatic mutations.

Mutations that are not located in the exons of genes may not be detected by this test.

Compatibility analysis

The HERES service is global/universal and allows you to test the compatibility of results regardless of the test used in each analysis.