Molecular Genetic Pathology in Connecticut

Laboratory of the Molecular Genetic Pathology performs the following tasks:

• provides early differential diagnosis of solid tumors (cancer of the bladder, prostate, etc.) by using Modern molecular genetic methods;
• use of molecular genetic markers for the diagnosis of hematologic diseases using FISH-method;
• conducts monitoring of a course of chemotherapy of oncological diseases by using specific molecular genetic markers of tumors;
• explores the effectiveness of molecular genetic techniques to evaluate the prognosis of cancer, early detection of tumor recurrence in Postclinical observation period.

That such molecular genetic diagnosis 

 There are hundreds of inherited diseases. The cause of hereditary diseases - mutation. Mutations - a pathological change in the genetic information at the gene or chromosomal level. Mutations lead to synthesis of the pathological protein.

 Hereditary diseases lead to severe disease is not curable, do not have available methods to alleviate the patient's condition. Some methods have only a theoretical value, as a sick child dies before birth. Given this, any man understands that better prevent such diseases. To do this serve as molecular-genetic diagnostic methods.

 Molecular genetic diagnostics - a complex of studies carried out for the diagnosis of hereditary diseases. Genetic diagnosis can be carried out in the course in vitro fertilization.

Methods of researches that are used for genetic diagnosis, allow to avoid birth of children with hereditary diseases.

 Today, doctors are able to make a diagnosis a child before birth, through the following methods:

• Genetic counseling. Medical Genetics is building a family tree of families. In the case of hereditary diseases with relatives, given the laws of inheritance, it is possible to assess the risk of disease in the child.
• Karyotype analysis. Karyotype - a set of symptoms that have human chromosomes. Using a special technique it is possible to visually check the chromosomal composition of cells for the presence of disease. The method is well established in the diagnosis of gross chromosomal abnormalities such as Down syndrome.
• The polymerase chain reaction. During the analysis can diagnose various genic pathologies with a high degree of accuracy. (phenylketonuria, cystic fibrosis, hemophilia)
• Sophisticated laboratory techniques to diagnose various diseases. They have a high price and rarely performed in clinical practice. For example, a complete mapping of the human genome.

Preimplantation genetic diagnosis is carried out in the course in vitro fertilization, or IVF. For the diagnosis from the embryo carried fence cells, which is directed to the study. With the resulting cells may be carried out any of the above tests. The method has one distinct advantage - accurate diagnosis established before pregnancy.

Another alternative - prenatal diagnosis. In this case, during pregnancy are conducted analyzes of a blood, amniotic fluid, fetal membranes. In case of pathologies detection - pregnancy is interrupted.