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What is a genetic test

Genetic test means the analysis, with clinical purpose, of DNA, RNA, chromosomes, proteins, metabolites or other genetic products, performed to highlight genotypes, mutations, phenotypes or karyotypes related or not to hereditary human diseases.

This definition includes prenatal, neonatal and carriers screenings, and tests on families at risk.

The results of this research can be applied to the diagnosis and prognosis of hereditary diseases, to the risk-disease prediction, to the identification of immune carriers, to the phenotype-genotype relationships.

On the other hand research tests are excluded from this definition.

Published 06-13-2006 in What it is , last update 10-28-2001 More...



Diagnostic tests
They allow to decide a diagnosis or confirm a clinical suspect of an ill person. They can be performed during the prenatal period or during the whole post-natal period. Examples: the cytogenetic analysis to identify chromosome anomalies, the search of mutations in the CFTR gene in newborns with recurrent pulmonary infections and suspected cystic fibrosis, the identification of expansion of the FRAXA gene in patients with a mental retardation diagnosis.

Pre-clinic and pre-symptomatic tests
Several genetic diseases, especially the autosomal-dominant type, can come out afterwards. If the responsible gene is known it is possible to determine if a subject without symptoms inherited or not the mutated allele thus developing the related...

Published 06-13-2006 in What it is , last update 10-28-2001 More...


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