What is Genetics?
- Genetic is the study of biological make up of an individual. Inheriting chromosome so genes from each parent determine a persons physical trait but at the same time faulty genes act as a carriers of various disease. The study of genes can foretell if an individual is likely to suffer from birth defect or has an increased risk of developing certain condition. Thus genetic testing is essential especially during the prenatal period.
What are Chromosomes?
- Cytogenetics is the study of chromosomes and the related disease states caused by abnormal chromosome number and/or structure. Chromosomes are complex structures located in the cell nucleus, they are composed of DNA, histone and non-histone proteins, RNA , and polysaccharides. They are basically the “packages” that contain the DNA. In short , chromosomes are the structures that hold our genes. Genes are the individual instructions that tell our bodies how to develop and keep our bodies running healthy. In every cell of our body there are plenty of genes that are located on 46 chromosomes. These 46 chromosomes occur as 23 pairs. We get one of each pair from our mother in the egg, and one of each pair from our father in the sperm. The first 22 pairs are labeled longest to shortest. The last pair are called the sex chromosomes labeled X or Y. Females have two X chromosomes (XX), and males have an X and a Y chromosome (XY). Therefore everyone should have 46 chromosomes in every cell of their body. If a chromosome or piece of a chromosome is missing or duplicated, there are missing or extra genes respectively. When a person has missing or extra information (genes) problems can develop for that individual’s health and development.
- Chromosome analysis provides “Hawkeye view” of an individual’s genetic information. Missing, extra, or rearranged chromosome material may be responsible for such diverse problems as birth defects, mental retardation, infertility, repeated miscarriages ,leukemias, MDS.
- Analysis of chromosome can aid in the diagnosis, prognosis and monitoring of such ailments and thus it is vital tool for medical geneticists along with pediatrician, obstetricians, gynecologist, perinatologist ,hematologist, oncologist, endocrinologist, pathologist and general physicians.
Which condition requires genetic study
Gynecological
Pediatrician
Oncology/Hematology
Lab test
Prenatal Diagnosis
Postnatal Diagnosis
Bone marrow study
Fish Study
Fish investigation for Leukemia/Lymphoma/MDS
Micro deletion syndrome
Prenatal Panal
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