Genetic Testing of Diseases - FAQs

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Genetic Testing of Diseases - FAQs

1. Are genetic diseases curable?
Genetic disases are, unfortunately, not curable, but many of them can be success managed. However, some of the diseases which are caused by a combination of genes and lifestyle, such as diabetes and heart diseases, can be prevented to a large extent.


2. Is there a difference between hereditary and genetic condition?
Hereditary conditions are common among blood relatives as they are passed on from one generation to the other. Genetic conditions on the other hand are diseases caused by changes in the chromosomes or genes.

3. Are the genetic tests absolutely fool proof?
No they are not. The interpretation of the genetic test is a skill by itself and can only be done by an expert. The reslts are at times ambiguous. Further tests may then be required. Sometimes errors may arise due to laboratory errors.

4. Is it safe to do amniotic fluid aspiration ?
Amniocentesis, if carried out by an expert, is most often safe. However there is an element of risk of miscarriage involved, as the procedure is invasive.

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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.

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!

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

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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