Genetic Testing in Pune

Do you need genetic counseling? preconception or in early pregnancy – infertility, multiple abortions, still births, previous child with intellectual disability/ short stature or learning disability, with suspected genetic disorder, advanced maternal age, pregnancy with positive triple/ quadruple test, fetus diagnosed with congenital malformation, marriage in blood relatives or couple being known carriers for genetic disorder i.e. thalassemia. In paediatric age group – developmental delay, intellectual disability, autism, congenital malformations (congenital heart disease, cleft lip and /or palate), short stature etc. In adults – familial or early onset of cancer, multiple family members affected similar type of symptoms etc. Timely diagnosis and intervention may help to prevent future recurrences in the family. In cases of cancers, it might help you in deciding prophylactic and treatment options. Consultation with a medical geneticist should be done in a timely manner, so that appropriate genetic work-up may be planned.

With the emergence of the new technologies that are establishing the role of the genes in various health conditions and diseases, there are emerging new testing technologies for the same. We are fully equipped with the modern technology for Predictive Genetic Testing to diagnose most of the genetic ailments. We take into consideration the studies made which show different values and the wide range of risk ratios compared to the general population may vary. Understanding Predictive Testing Predictive testing basically predicts whether the person may develop a disease or not, or the same may happen in the future or not. Two categories of the predictive test : Pre-symptomatic Testing is a test that predicts exactly that the condition will definitely develop or will not. For instance there are tests for Huntington’s disease and Familial Adenomatous Polyposis which give results with a definite yes or no if the person would develop these diseases or not.Susceptibility Testing will not tell about the definite yes or no about person developing a disease yet it may disclose about the faulty genes which may result into the occurrence of the disease in the future. There is a role for the other genes or the environmental factor to play. There are chances that the person may be carrying the faulty genes but may never develop the disease ever. Predictive genetic testing is different from the other medical diagnostic testing as it can raise certain other issues as well. For instance predictive medical testing on one family member can show its implications on other family members as well though in very rare case.