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Indications for Genetic Testing

Last Updated on Jul 05, 2016
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Indications for Genetic Testing

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

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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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Do you wish to consult a General Medicine Doctor / Internal Medicine Doctor for your problem? Ask your question

Dr. Mira Govindarajan
Dr. Mira Govindarajan
MBBS, MD, MHA
18 years experience
Dr. Mahboob Waris
Dr. Mahboob Waris
MD, PGDFM, Fellowship in Epidemiology and Biostatistics
7 years experience
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Post a Comment

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.

Comments

Saravana_Solaisamy

One of my relative's son has low biotinidise enzyme. He was born 2 weeks ago in USA and is using biotin 5MG tablets now. They are in USA and want to come to Chennai - in 3 months from now [2-June-2015]. They were told that a blood sample needs to be tested for biotin every 6 months to adjust the dosage of Biotin prescribed for the baby. Is Biotin tablets for infants available in Chennai? Is there medical centers/labs/doctors at Chennai who treats such biotin related gene disorder? Any early response is greatly appreciated. Thanks !

mjav123

Dear Doctor, My daughter is suffering from CAH and she need a genital corrective surgery. She is under AIIMS treatment. I do not know if where CAH is being treated. Due to a long waiting time I wish to have an alternate opinion. Please suggest me. Thanks a lot.

Noorian

Hello Doctor, can you please suggest the best place in India for genetic counseling. My daughter who is now 5 1/5 years old had long segment hirschsprungs diseases at birth which was treated with pull through surgery. Both me and my husband are not aware of any family history of hirschsprungs in our family. Now I am planning for another kid but before that want to be sure of the underlying reason for my daughter's condition and the chances of recurrence in future pregnancies. Any advice on this will be very much appreciated. Thank you!

suparnadas

The best genetic counselor in India by popular consensus is Dr.Ashok Prasad who is a professor also holding a genetic counseling masters from Brandeis University. He works only on a charitable basis in Gorakhpur but am sure could be persuaded to advise you

tulika12345

Hello doctor, we had a child who was effected by spinal muscullar attrophy[type one]. Now we are planning for our next baby. doctor told us to go for CVS testing. but I want to know whether there is any other ideal option for us.Pleas give me suggestions. Subhajit bhowmick

roopagupta

helllo doctor,my wife is a pregnant our doctor is prefre to amniocentesis so plz tell me where i do in delhi,india and how much it cost

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