We work alongside families to identify healthy family members with pathologies or those at risk.

Our genetic analysis applied to the family are useful to identify the variants of pathogenetic significance and the presence / absence of known or ex novo variants in the nucleus and to identify healthy or at-risk family members.

Why take the tests

Family analysis makes it possible to identify pathological conditions that are difficult to catalog from a clinical point of view, as they are possibly conditioned by the presence of genetic mutations found in the patient and possibly in family members.

Who the tests are for

The tests are aimed at the proband with the disease, his parents or other relatives.

What the test detects

These tests are state-of-the-art diagnostic tools, capable of providing reliable information on the entire family and individual genetic makeup. The analysis of the genomic data allows to classify the mutations of potential pathogenetic significance on the basis of: family transmission and segregation models, public and private databases of pathogenetic mutations and frequency in the population.

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