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Indications for Genetic Testing


Indications for Genetic Testing

Genetic testing is primarily used for the diagnosis of a disease and for screening the carrier status

Genetic testing and counseling may be offered in the case of the following-

  • Confirmation of the diagnosis of a medical condition that is genetic in nature, for a child or an adult
  • If there is a family history of a specific disease
  • If several members of a family present with symptoms of the same disease
  • If there is concern over passing a genetic disease to the next generation
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  • If a person belongs to a particular ethnic group that is at a high risk to develop a disease eg, Tay-Sach's disease in Ashkenazi Jews
  • If the couple are blood relatives and have entered into a consanguineous marriage
  • If a couple wants to start a family and one of them has a family history of a disease, genetic testing will reveal if they are "carriers" of a particular illness
  • If a women is pregnant and is above the age of 34
  • If a woman has had more than two spontaneous abortions
  • If a woman's baby was still born and the baby's physical characteristics indicated a genetic disease
  • If a couple already has had a child with a genetic disease and is planning for the next child
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