Genetic Test
Analysis of DNA, chromosomes, proteins, and metabolic processes to detect hereditary diseases.
Genetic Test Overview
Genetic test aims at the analysis of DNA, chromosomes, proteins, and metabolic processes to detect hereditary diseases, being related to the genotype, mutations, the phenotype or karyotype, with clinical purposes.
Key Features
Predictive Test
Identify genetic predisposition to hereditary diseases before symptoms appear.
Carrier Test
Determine if an individual carries one copy of a gene mutation that could be passed to offspring.
Pharmacogenetic Test
Analyze how genes affect an individual's response to drugs for personalized treatment.
Detailed Description
In oncological patients, FISH method is used to detect or confirm aberrations that cannot be identified by standard karyotyping. The FISH method is generally quite sensitive and it is also commonly used to monitor the treatment of patients with onco-hematological diseases. In non-oncological patients such as prenatal diagnostics, FISH analysis complements and in certain cases replaces cytogenetic analysis of peripheral blood, amniotic fluid, and chorionic villus samples. FISH is used to confirm the cytogenetic findings and also to detect various aberrations that cannot be detected by karyotyping due to its low sensitivity, e.g., microdeletion syndromes.
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