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Genetic Testing of Diseases

Last Updated on Jul 05, 2016
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About Genetic Testing

Genetic testing involves the study of genetic material, using laboratory techniques, to detect a genetic condition in an individual

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Genetic testing is usually used to diagnose a disorder and also to evaluate the possibility of an individual developing a certain disorder.


Genetic Screening is available for more than 1300 genetic disorders, some of which are listed below-

  • Cystic fibrosis
  • BRCA screening for breast cancer
  • Colon cancer
  • Huntingdon's disease
  • Sickle cell trait
  • Thalessemias
  • Phenylketoneuria
  • Tay-Sach's disease
  • Muscular dystrophy
  • Hemophilia
  • ADA deficiency
  • Most of the chromosomal abnormalities such as- Down syndrome, Turner's syndrome, Klinefelter syndrome

It is widely known that every human being carries 46 chromosomes, in each cell. Located on these chromosomes are the genes, which produces key proteins, such as hormones and enzymes, which play a pivotal role in the well- being of an individual. Some diseases result from abnormalities or 'mutations', on the chromosomes. Others may arise due to defects in the genes. In some instances, genetic abnormalities are hereditary, while in others it is brought on spontaneously or 'de novo'. It is now widely believed by the scientific fraternity that a combination of genes and environment brings about these mutations, leading to a range of illnesses.

Earlier genetic testing was confined to detecting aberrations on the chromosomes through a method called Karyotyping. In recent times, evaluating the DNA, which is the basic unit of heredity, has been made possible, by sophisticated techniques. This has paved way to the better understanding of the familial pattern of inheritance of a wide array of diseases and the identification of the increased propensity of some individuals to develop these diseases.

Each generation is a filter, a sieve; good genes tend to fall through the sieve into the next generation; bad genes tend to end up in bodies that die young or without reproducing. - River Out of Eden

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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 !


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


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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