Clinical Genetics Home Care Centres Speciality Care Clinical Genetics Overview The Department of Clinical Genetics at Sir H. N. Reliance Foundation Hospital specialises in addressing various hereditary diseases through comprehensive services, such as genetic counselling and medical genetics, focussing on diagnosing, managing, and preventing genetic disorders with the help of advanced diagnostic tools and personalised care. Notably, our department specialises in genetic counselling services and risk assessment, wherein the risk of developing genetic conditions is calculated using advanced diagnostic testing, including paediatric and prenatal genetic testing. The department offers compassionate support to patients and their families, guiding them in understanding genetic risks, inheritance patterns, and available treatment options. Location: Level 3, Tower Building Timings: 08:00 am – 08:00 pm Request a call back Fill in the details below and our advisor will get in touch with you in the next 24 hours Name * Email * Mobile * Enquire For * Location * I consent to receive communications and share my personal data, as per the Terms & Conditions * Captcha Get new captcha! What code is in the image? Enter the characters shown in the image. Our Services Technology & Infrastructure Conditions we treat Our department specialises in providing genetic counselling services and recommendations for appropriate genetic tests to diagnose, manage, and treat several inherited disorders. Our services include: Genetic Counselling Clinic: Genetic counselling is a conversation led by a trained Genetic Counsellor who explains inherited conditions and offers emotional support.In our clinic, 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 helps them make informed decisions. Medical Genetics Clinic: Whether you are a patient, a concerned individual, or just someone enthralled by the marvels of genetics, our medical genetics clinic has you covered.Our clinic offers patients a detailed understanding of these conditions, fostering compassion and support for patients with genetic disorders.Our team of medical and clinical geneticists collaborate with specialists across hospital to curate personalised tests to diagnose genetic conditions depending on the family and clinical history.Once a genetic disorder is identified, the clinical geneticist provides counselling regarding the disease's possible treatment plan, prognosis, and recurrence risk. Paediatric Medical Genetics: Our team specialises in diagnosing and managing genetic conditions in children. This includes single-gene disorders such as cystic fibrosis, sickle cell disease, and muscular dystrophy, as well as congenital (birth) anomalies with a genetic basis, such as cleft lip and palate. Know More Our department boasts a variety of advanced diagnostic equipment and the latest genetic testing technologies; these enable us to detect and manage a wide variety of genetic conditions. Our department specialises in the diagnosis, management, and treatment of a wide variety of inherited diseases: Hereditary cancers: Cancers caused by genetic mutations that are inherited, increasing the likelihood of the cancer associated with the mutation(s) developing in the person.Inherited cardiac conditions: Heart problems caused by genetic mutations that are passed down through families.Chromosomal abnormalities: Genetic conditions resulting from alterations in chromosomal number or structure; these often cause birth defects, intellectual disabilities, and/or reproductive problems.Inherited metabolic disorders: Genetic conditions associated with the inability of the body to metabolise food and nutrients and produce energy; these are often caused by mutations in genes associated with enzymes or specific proteins involved in essential metabolic pathways. Single-gene disorders: Including:Thalassaemia: A group of disorders associated with reduced haemoglobin production and/or the production of abnormal haemoglobin.Muscular dystrophy: A group of diseases associated with progressive muscle weakness and damage.Huntington’s disease: A hereditary neurodegenerative disease associated with progressive brain cell damage.Sickle cell disease: A group of disorders characterised by the presence of abnormal haemoglobin, which in turn, results in red blood cells becoming rigid and sickle-shaped.Birth defects: Also called congenital anomalies, these are genetic conditions associated with the occurrence of structural/functional abnormalities occurring during the development of the foetus, and are thus, present at birth. The most common and serious birth defects are as follows:Neural tube defects: Birth defects affecting the brain and spinal cord that are caused by the incomplete closure of the neural tube, an important structure during embryonic development that later forms the brain and spinal cord, during pregnancy.Cleft lip/palate: A birth condition occur when the baby’s upper lip is not completely formed during pregnancy (cleft lip) or when the roof of the baby’s mouth (palate) does not join completely during pregnancy (cleft palate).Down’s syndrome: A condition associated with an extra copy of chromosome 21, which is associated with brain development; this extra chromosome causes developmental delay and intellectual disabilities. Partners In Care Tanmay Ulhas Deshpande Consultant - Medical Genetics & Counsellor Medical Genetics Laboratory Medicine Paediatric Clinical Genetics