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Genetics

The Genetics department is dedicated to providing comprehensive care for individuals and families affected by genetic conditions.

Our team of board-certified geneticists, genetic counselors, and specialized healthcare providers offers expert diagnosis, management, and counseling for a wide range of genetic disorders.

We are committed to delivering personalized, patient-centered care, ensuring that each patient receives the support and resources they need to make informed decisions about their genetic health.

Comprehensive Genetics Services

Our Genetics department offers a full range of services to diagnose, manage, and support individuals with genetic conditions, including:

• Genetic Counseling:
Personalized counseling to help individuals and families understand the implications of genetic conditions, including inheritance patterns, risk assessment, and options for testing and management.

• Prenatal Genetic Testing and Counseling:
Comprehensive services for expectant parents, including carrier screening, non-invasive prenatal testing (NIPT), amniocentesis, and chorionic villus sampling (CVS), with expert counseling on the results.

• Pediatric Genetics:
Specialized care for children with genetic disorders, including congenital anomalies, developmental delays, and inherited metabolic disorders, with a focus on early diagnosis and intervention.

• Cancer Genetics:
Risk assessment, genetic testing, and counseling for individuals with a family history of cancer, including hereditary breast and ovarian cancer (BRCA), Lynch syndrome, and other cancer predisposition syndromes.

• Cardiovascular Genetics:
Diagnosis and management of inherited cardiovascular conditions, including hypertrophic cardiomyopathy, long QT syndrome, and familial hypercholesterolemia, with a focus on prevention and treatment.

• Neurogenetics:
Expert care for individuals with genetic neurological disorders, including Huntington's disease, muscular dystrophy, and hereditary neuropathies, offering both diagnostic testing and management options.

• Metabolic Genetics:
Diagnosis and management of inherited metabolic disorders, including phenylketonuria (PKU), maple syrup urine disease, and other inborn errors of metabolism, with access to specialized dietary and medical treatments.

Services and Programs

Personalised, Expert Care

The Genetics department at our hospital offers a variety of specialized services and programs designed to meet the diverse needs of our patients:

• Comprehensive Genetic Testing:
Access to a wide range of genetic tests, including single-gene tests, panel tests, whole exome sequencing, and whole genome sequencing, tailored to the individual’s needs and clinical presentation.

• Carrier Screening:
Genetic testing for individuals or couples planning a pregnancy to determine if they are carriers of inherited conditions that could affect their offspring.

• Pharmacogenomics:
Genetic testing to guide medication choices based on an individual’s genetic makeup, helping to optimize drug efficacy and reduce the risk of adverse reactions.

• Newborn Screening and Follow-Up:
Early detection of genetic conditions in newborns through state-mandated screening programs, with follow-up care and management for confirmed diagnoses.

• Personalized Treatment Plans:
Development of individualized care plans based on genetic test results, including recommendations for surveillance, lifestyle modifications, and preventive interventions.

• Family Risk Assessment and Counseling:
Evaluation of family history and genetic risks, providing families with information and guidance on managing inherited conditions and making informed reproductive choices.

• Educational Workshops and Seminars:
Educational sessions for patients, families, and healthcare providers on various topics related to genetics, including advances in genetic testing, understanding genetic risks, and ethical considerations.

• Telehealth and Virtual Genetic Counseling:
Convenient access to genetic counseling and consultations through virtual appointments, allowing patients to receive expert advice and support from the comfort of their homes.

Specialised Programs and Initiatives

The Genetics department offers several specialized programs to enhance the care provided to our patients:

• Hereditary Cancer Program:
A comprehensive program offering genetic testing, risk assessment, and preventive care for individuals at increased risk of hereditary cancers, with a focus on early detection and personalized treatment options.

• Prenatal and Reproductive Genetics Program:
Specialized care for couples planning a pregnancy or expecting a child, including preconception counseling, carrier screening, and genetic testing for prenatal diagnosis.

• Cardiogenetics Clinic:
A multidisciplinary clinic providing expert care for individuals with inherited cardiovascular conditions, including genetic testing, family screening, and personalized management plans.

• Metabolic Disorders Program:
A dedicated program for the diagnosis and management of inherited metabolic disorders, offering access to specialized treatments, dietary support, and long-term care.

• Neurogenetics Center:
A specialized center focused on the diagnosis and treatment of genetic neurological disorders, with access to the latest research and clinical trials for novel therapies.

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