One test to easily detect thousands of genetic diseases
With GExome® it is possible to have a diagnosis even with non-specific symptoms. Finally, you will find an answer to your doubts.
Genetic diseases are often characterised by generic and uncertain symptoms that make diagnosis very difficult for the physician.
Not being able to find the cause of a specific disease also leads to frustration and discomfort within the family.
For these reasons, the OrizzonteNascita project of Eurofins Genoma led to the development of GExome®: a test that allows the entire coding region of all human genes to be sequenced, identifying disease-related variants.
The early discovery of genetic variants represents an important opportunity for prevention, as it allows the most appropriate treatment pathways to be applied and enables better healthcare planning.
GExome® is an innovative genetic test that analyses the coding region of all 20,000 human genes, identifying genetic variants related to the potential disease.
Genetic diseases may be characterized by non-specific symptoms that make it difficult to obtain a clear diagnosis.
Most genetic tests focus on a single or limited number of genes and this may lead to an inability to detect the disease-related variant. With GExome®, however, you will find an answer to your doubts.
How is it done?
GExome® is performed with a simple blood sample from the child.
What does the blood contain?
GExome® involves the analysis of the entire exome (the region that contains the “instructions” necessary for protein production) to detect the presence of genetic alterations responsible for Mendelian diseases, i.e. due to a single gene.
GExome® is a powerful clinical investigation tool.
Many genetic tests limit the investigation to the gene of interest. Gexome®, on the other hand, provides an advanced technological solution and investigates more than 20,000 genes simultaneously with a single sample: it is essential in the diagnosis of a pathology because it expands the clinical picture, no longer limited to observing the patient’s symptoms.
It is a high-tech test.
GExome® can detect:
Anomalies also associated with defects in a single gene (Mendelian pathologies).
Uncertain alterations associated with a pathology.
Anomalies not inherited from parents and anomalies inherited by both parents.
GExome® offers 3 diagnostic options
Clinical
Allows for the analysis of over 4,800 genes, i.e. all genes known so far to be associated with disease.
Trio
Allows for the analysis of all 20,000 human genes. The test is performed on the child and his/her biological parents.
Proband
Allows for the analysis of all 20,000 human genes. The test is performed only on the child.
We recommend GExome® in case of:
Undefined genetic disorder with multiple diagnoses.
Genetic disorder caused by various anomalies.
Suspected genetic disorder for which a specific genetic test is not available.
Previously performed genetic tests with unsatisfactory results.
We recommend GExome® for those with:
Bone and connective tissue diseases
Undiagnosed metabolic diseases
Short stature
Immunodeficiency
Ataxia
Neuropathy
Deafness
Intellectual disability/developmental delay
Cardiomyopathy
Epilepsy
Muscular dystrophy