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Genetic Test

Genetic Test

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.


Cytogenetics Analysis Types
There are different types of analysis and genetic tests, but we will limit ourselves to 3 kinds.


Predictive Test:

These tests are used to detect mutations that are associated with diseases that may appear throughout life. These tests can help people who have a family member suffering a genetic disease but they are not suffering it when the test is performed to predict if they will suffer the disease in the future, to know their genetic susceptibility to suffer it. These predictive tests identify mutations that increase or decrease the chances of developing a disease

Carrier Test:

The carrier genetic test is used to screen people who own one copy of a genetic mutation and when that mutation is present in two copies, it causes a genetic disease. This kind of test is offered to people who have a family history of genetic disorders and people of ethnic risk groups who have specific genetic diseases. If both parents are tested, the test can provide information about the risk of having a child with genetic problems.

Pharmacogenetic Test:

The goal of pharmacogenomics is to create drugs and prescriptions tailored to each patient and tailored to their genomic conditions. It helps to determine which drug will be most effective and, determine which drug will be the safest (limiting side effects) and determine the proper dose of a given drug. It is important to be aware that in addition to genetic factors, environment, diet, lifestyle and health status may influence in the response to a drug

Dna Fish Is Used For


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 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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