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Neuberg Diagnostics Private Limited, a StartUp in the PathLab chain segment organized a webinar talk by Dr.Udhaya Kotecha, MD Pediatrics, Fellowship in Medical Genetics. Dr. Udhaya Kotecha spoke about “Genetics in Endocrinology”.

The webinar was organized on request by Dr Rahul Reddy, a well known practicing pediatric endocrinologist in Hyderabad. The webinar was a part of a continuing medical education process, wherein the focus was to discuss available genetic testing in pediatric endocrinology, their applications, utility, differences and limitations. 

Within pediatric endocrinology, a genetic basis is suspected in patients in many scenarios. A few examples include Neonatal Diabetes Mellitus (NDM) especially when diagnosed with the same before 6 months of age, Maturity Onset Diabetes of Young (MODY), ambiguous genitalia and other disorders of sex development, short stature (especially if not attributable to familial traits), childhood obesity, congenital hypothyroidism, lipid metabolism defects etc. Traditionally available biochemical testing helps categorize these disorders into a particular subgroup, but genetic testing is required to define the underlying genetic basis. Detected genetic variations serve to guide treatment decisions (KATP channel genes and sulfonylurea for treatment) as well as predict and monitor treatment response (Growth Hormone and PTPN11 mutations). Genetic disorders are associated with a risk of recurrence and hence prenatal testing is often desired. This is possible only when the underlying disorder has been genetically characterized. This also allows testing other related “at-risk” family members.

Dr. Udhaya Kotecha said, “Genetic testing has forayed into pediatric endocrinology practice as multiple endocrine conditions are attributed to gene defects. While biochemical testing forms the first line test, an abnormality in the same raises suspicion but does not lead to a definitive diagnosis. With the advent of modern Next Generation Sequencing technology, testing multiple genes (which may be responsible for a particular clinical symptom) has become easier thus increasing the chances of a diagnosis. A definitive genetic diagnosis is the first step towards precision medicine.”

Speaking on the occasion, Aishwarya Vasudevan, COO of Neuberg Diagnostics said, “The impact genetic diagnostics can have on the health of an individual, as well as the population is tremendous. We aim to spread awareness on the subject to both patient and clinician via such virtual seminars. The talk given by Dr. Udhaya, enlighten us on the most recent developments in the field of genetic testing. I hope this has empowered the treating endocrinologist to select the most appropriate test, which will aid them in treating their patient more effectively.”

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Dr. Udhaya Kotecha, is quite well known in the medical field and among other medical experts in the country. She has acquired a vast experience of over 14 years in the area of diagnosis and management of various common as well as rare genetic conditionsShe serves as a Consultant in the Genetic department of many hospitals. 

About Neuberg Diagnostics

The best-in-class laboratories from across India, UAE & South Africa have united under the banner of Neuberg Diagnostics to bring the latest technology and techniques within the reach of developing countries. Utilizing their combined strengths, the Neuberg alliance brings capabilities to perform over 6000 varieties of Pathological investigations and will promote Prevention & Early Diagnosis, Focused Wellness Programs and Structured Disease Management programs for Chronic and Lifestyle Conditions using the most advanced technologies assisted by Data science and AI tools. Today, Neuberg Diagnostics is among the top diagnostics companies of Indian origin and the fastest growing healthcare start-up in India. The founding members of the Neuberg consortium – Anand Diagnostic Laboratory (Bangalore), Supratech Micropath (Ahmedabad), Ehrlich Laboratory (Chennai), Global Labs (South Africa), and Minerva Diagnostics (Dubai) bring their combined heritage of over 200 years and process over 20 million samples annually. Some of the best Pathologists, Biochemists, Geneticists, Microbiologists and several other Clinical Lab Professionals from around the world are working closely, sharing knowledge and using the latest generation of diagnostics techniques to take accurate and timely diagnosis to the next level.

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