Clinical Genetics

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    Clinical Genetics

    Clinical Genetics is a medical specialty which offers diagnostics analysis and genetic counseling to individuals as well as families who are at a higher risk of conditions or problems which have a genetic basis.  Genetic disorders can affect any age group and any body system. The prime objective of genetic services is to offer assistance to those who are either affected by or at a higher risk of any kind of genetic disorder. Genetic disorders encompass issues such as:

    • Chromosomal abnormalities, this leads to several birth defects, problems like mental retardation and even reproductive problems.
    • Familial cancer and cancer-prone syndromes like inherited breast cancer or colorectal cancer, neurofibromatosis.
    • Single gene disorders like muscular dystrophy, cystic fibrosis, Huntington’s disease, sickle cell disease etc
    • Birth defects due to genetic reasons like cleft lip and palate, neural tube defects etc

    Apart from this a huge number of people who suffer from birth defects or learning disabilities are investigated for genetic reasons. Individuals who are identified via the childhood and pregnancy screening programs also necessitate clinical genetic services. There are genetic contributions to later-onset disorders like diabetes and coronary heart disease, genetic services offer assistance to those who are at a higher risk. Testing for genetic factors also impacts drug prescription and this has become very important.

    Clinical Genetics Unit
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    Dr. Rekha GuptaConsultant Fetal Medicine & Genetics

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