Institute of Medical Genetics

Institute of Medical Genetics are specialized healthcare facilities dedicated to the evaluation, diagnosis, and management of genetic disorders and hereditary conditions. These clinics play a crucial role in helping individuals and families understand their genetic makeup, assess their risk for inherited conditions, and provide counselling and support for navigating the complexities of genetic health. By combining cutting-edge genetic testing with expert clinical care, Medical Genetics empowers individuals to make informed decisions about their health and that of their future generations. 

Conditions Treated By The Department

  • Hereditary Cancer Syndromes: Conditions like BRCA mutations, Lynch syndrome, and familial adenomatous polyposis, predispose individuals to certain types of cancer.
  • Chromosomal Abnormalities: Disorders caused by variations in the number or structure of chromosomes, such as Down syndrome, Turner syndrome, and Klinefelter syndrome.
  • Metabolic Disorders: Conditions like phenylketonuria (PKU), maple syrup urine disease, and Gaucher disease, which result from enzyme deficiencies affecting metabolic pathways.
  • Neurogenetic Disorders: Conditions like Huntington's disease, muscular dystrophy, and hereditary ataxias, which affect the nervous system.
  • Inborn Errors of Metabolism: Genetic conditions that disrupt normal metabolic processes, often leading to the accumulation of toxic substances in the body.
  • Connective Tissue Disorders: Conditions like Ehlers-Danlos syndrome and Marfan syndrome, affect the body's connective tissues, leading to various symptoms.

Common Procedures

Institute of Medical Genetics specializes in diagnosing and managing genetic disorders and inherited conditions. Key procedures and services provided in these clinics include:

  • Genetic Counseling: Providing information and support to individuals or families who have, or may be at risk for, genetic conditions. This involves discussing potential risks, inheritance patterns, testing options, and implications of genetic disorders.
  • Genetic Testing: Various types of genetic tests are used to diagnose genetic conditions, assess the risk of developing certain diseases, and guide treatment decisions. This includes DNA sequencing, chromosomal karyotyping, and specialized tests like microarray analysis.
  • Prenatal Genetic Testing and Counseling: Offering genetic testing and counseling to expectant parents. This includes tests like amniocentesis, chorionic villus sampling (CVS), and non-invasive prenatal testing (NIPT) to detect genetic abnormalities in the fetus.
  • Newborn Screening: Conducting genetic testing on newborns to identify genetic disorders that can be treated early in life.
  • Cancer Genetic Counseling: Assessing risk and providing guidance for individuals with a family history of cancer, or those diagnosed with cancer types linked to genetic mutations, such as BRCA mutations in breast and ovarian cancer.
  • Pharmacogenomics Testing: Analyzing how genetic variations affect an individual’s response to certain medications to guide personalized treatment.
  • Management of Inherited Metabolic Disorders: Providing diagnosis, dietary management, and treatment strategies for disorders like phenylketonuria (PKU), Tay-Sachs disease, and Gaucher's disease.
  • Risk Assessment for Hereditary Disorders: Evaluating family history and genetic information to determine an individual's risk of inheriting conditions like cystic fibrosis, sickle cell disease, Huntington's disease, and others.
  • Genetic Syndrome Evaluation and Diagnosis: Identifying and managing complex genetic syndromes such as Down syndrome, Turner syndrome, Marfan syndrome, and others.
  • Carrier Testing: For couples planning a pregnancy or who are pregnant, to determine if they are carriers of genes for genetic disorders like cystic fibrosis, thalassemia, or Tay-Sachs disease.

Key Advantages

  • Empowerment through Knowledge: Understanding one's genetic makeup allows for informed decision-making about health management, family planning, and lifestyle choices.
  • Early Intervention and Treatment: Early diagnosis of genetic conditions can lead to timely interventions, potentially improving outcomes and quality of life.
  • Family Planning: Knowledge of genetic risks enables individuals and couples to make informed decisions about family planning, including prenatal testing and assisted reproductive technologies.

Call 011-42888888 to book an appointment with a specialist at Sri Balaji Action Medical Institute.

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Meet Our Doctors

Dr. Hemlata Wadhwani Bhatia

Senior Consultant and Unit Head

Institute of Medical Genetics

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Dr. Hemlata Wadhwani Bhatia

Senior Consultant and Unit Head

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