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Clinical Genetics

Overview

The Department of Clinical Genetics at the Sir H. N. Reliance Foundation Hospital specialises in addressing genetically inherited diseases, including chromosomal abnormalities, birth defects, hereditary cancers, and other inherited conditions. Through comprehensive services, such as genetic counselling and medical genetics, the department focuses on diagnosing, managing, and preventing genetic disorders with the help of advanced diagnostic tools and personalised care. The department offers compassionate support to patients and their families, guiding them in understanding genetic risks, inheritance patterns, and available treatment options. Fostering informed decision-making empowers individuals to manage their conditions effectively, strive for overall well-being, and live fulfilling lives.

Location: Level 3, Tower Building 

Timings: 08:00 am to 08:00 pm 

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  • About Us
  • Our Services
  • Conditions we treat
The Tower

The Department of Clinical Genetics at the Sir H. N. Reliance Foundation Hospital specialises in addressing genetically inherited diseases, including chromosomal abnormalities, birth defects, hereditary cancers, and other inherited conditions. It also includes genetic risk assessment, i.e., the risk for developing genetic conditions is ascertained using advanced diagnostic testing methods, including paediatric and prenatal genetic testing, to analyse alterations in specific genes/gene regions, alterations in which correspond to specific conditions, and the association between such alterations and the occurrence of inherited conditions.

Through comprehensive services, such as genetic counselling and medical genetics, the department focuses on diagnosing, managing, and preventing genetic disorders with the help of advanced diagnostic tools and personalised care. The department offers compassionate support to patients and their families, guiding them in understanding genetic risks, inheritance patterns, and available treatment options. Fostering informed decision-making empowers individuals to manage their conditions effectively, strive for overall well-being, and live fulfilling lives, including the ability to reproduce.

The Tower

At the Clinical Genetics Department, we specialise in providing genetic counselling services and recommendations for appropriate genetic tests for patients to diagnose, manage, and treat several inherited disorders. Our team assists patients in interpreting the results of such tests and providing suitable plans of action based on these results. Our services include:

Genetic Counselling Clinic

Genetic counselling is a process whereby a genetic counsellor is a healthcare professional who provides genetic information to patients regarding the presence of any inherited conditions and offers guidance and psychological support to deal with the implications of such conditions. A genetic counsellor comprehensively assesses the risk of an inherited condition by thoroughly examining the medical and family history. If the patients or their family members are at an increased risk of developing a particular genetic condition, the genetic counsellor helps them understand its genetic basis and recommends appropriate genetic testing options for its diagnosis and treatment strategies for its management. The genetic counsellor helps people weigh all available options for a suitable treatment and favourable prognosis and make informed decisions in their’ and their families’ best interests. Our genetic counselling clinic aims to assist those affected by or at risk of a genetic disorder that helps them live and reproduce as normally as possible.

Medical Genetics Clinic

The intricate world of Medical Genetics delves into the fascinating field of inherited disorders. Whether you are a patient, a concerned individual, or just someone who is enthralled by the marvels of genetics, the Sir H. N. Reliance Foundation Hospital has you covered.

The knowledge of inherited and genetic disorders is expanding quickly, opening up new perspectives on the complex processes that constitute our genetic code. By understanding these conditions, we can foster compassion and support for patients with genetic disorders and achieve scientific development in the field of medical genetics. Medical and clinical geneticists work with multiple specialists to accurately curate a genetic test for an individual depending on the family and clinical history. Once a genetic disorder is identified, the clinical geneticist provides counselling regarding the possible treatment plan, prognosis, and recurrence risk of the disease.

Paediatric Medical Genetics

Clinical genetics deal with genetic disorders, including single gene disorders like cystic fibrosis, sickle cell disease, and muscular dystrophy, as well as congenital (birth) defects with genetic components, such as cleft lip and palate.

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The Tower

Genetically Inherited Diseases:

  • Hereditary cancers
  • Hereditary cardiac conditions
  • Chromosomal abnormalities which cause birth defects, intellectual disabilities, and/or reproductive problems
  • Inherited metabolic disorders
  • Single gene disorders, such as:
    • Thalassaemia: a group of disorders associated with reduced haemoglobin production
    • Muscular dystrophy: group of diseases associated with progressive muscle weakness and damage
    • Huntington's disease: a disease associated with brain cell damage
    • Sickle cell disease: a group of disorders associated with abnormally shaped red blood cells
  • Birth defects associated with the involvement of a genetic component
    • Neural tube defects
    • Cleft lip
    • Cleft palate

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