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Chapter: Basic Concept of Biotechnology - Medical Biotechnology

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Detecting Genetic Diseases

Earlier, genetic testing was usually performed on foetuses for the purpose of identifying the sex of a child or for identifying a number of genetic diseases such as syndromes.

Detecting Genetic Diseases

Earlier, genetic testing was usually performed on foetuses for the purpose of identifying the sex of a child or for identifying a number of genetic diseases such as syndromes. Mostly, amniocentesis was conducted in such cases and then karyotyping was performed. Karyotyping is also used for adults for checking missing, duplicate or defective chromosomes in adults. With the advancement of research, more refined techniques are being invented; and being useful to detect individual diseased genes in children and adults. Correct diagnosis of a genetic disorder allows for more rapid and effective application of appropriate treatment.

Gene Tests based on DNA can detect inherited breast and ovarian cancer, Amyotrophic lateral sclerosis (ALS), Hereditary nonpolyposis, Alzheimer's disease, Ataxia telangiectasia, Hemophilia A and B, colon cancer, Tay-Sachs Disease, Cystic fibrosis, Myotonic dystrophy, Spinal muscular atrophy, Sickle cell disease etc.


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