Interpreting Genetic Test Results

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Interpreting Genetic Test Results

The reliability of the tests depends on the sensitivity of the techniques employed, and the ability of the specialists to accurately interpret the test results.

The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain.

While interpreting test results, healthcare professionals consider a personís medical history, family history, and the type of genetic test that was done.

Depending on its intent, the test may:
  • Help to confirm a diagnosis
  • Determine the carrier status of an individual
  • Indicate increased susceptibility to a disease.

a. Testing positive

Testing positive for a genetic disorder means that the individual has a specific gene mutation or chromosomal abnormality for which the test was carried out. Testing positive helps to determine the risk of developing a particular disease, but it does not necessarily mean that the affected individuals will definitely develop the disease during their life time. For example inherited mutations, including those in BRCA1 and BRCA2, contribute to just 5-10% of all breast cancers

A positive test result may also make it necessary for close blood relatives of the person to be screened. It is important to note that a positive result of a presymptomatic genetic test usually cannot establish the exact risk of developing a disorder. Also, health professionals typically cannot use a positive test result to predict the course or severity of a condition.

Testing Negative

A negative test result indicates that an individual does not harbor the mutation in the gene that he has been tested for, but this result does not necessarily rule out the disease completely. However testing negative rules out the carrier status and implies that the probability of acquiring the disease is minimal.

Sometimes genetic tests can be ambiguous or inconclusive. In such cases testing other members of the family might help.

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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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