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Department of Medical Genetics

KMC , Manipal
Health Sciences

The Department of Medical Genetics at Kasturba Medical College, Manipal, under Manipal Academy of Higher Education, integrates clinical genetics, genetic counselling, genomic diagnostics, medical education, and rare disease research. The department provides consultation and diagnostic services for individuals and families affected by genetic disorders, congenital anomalies, and birth defects. Supported by specialised laboratory facilities and collaborations with institutions in India and abroad, it offers clinical evaluation, genomic testing, management guidance, reproductive counselling, prenatal diagnosis, and opportunities for patients to participate in ongoing research. The department has a strong research focus on rare genetic disorders and disease-gene discovery using advanced sequencing technologies.

Highlights

  • Provides specialised clinical evaluation, diagnosis, management guidance, and genetic counselling for patients and families affected by inherited disorders and congenital anomalies.
  • Offers preconception counselling, carrier screening, reproductive-risk assessment, and prenatal diagnosis for families with or without a known history of genetic disease.
  • Provides diagnostic testing for rare disorders using chromosomal microarray, SNP microarray, gene-panel testing, and whole-exome sequencing.
  • Operates specialised facilities for cytogenetics, molecular genetics, biochemical genetics, prenatal testing, and fetal evaluation.
  • Evaluates a broad spectrum of conditions, including malformation syndromes, chromosomal disorders, genetic anaemias, neurodevelopmental disorders, skeletal dysplasias, muscular dystrophies, metabolic diseases, inherited deafness, infertility, and familial cancers.
  • Has a major research focus on rare-disease diagnosis, disease-gene discovery, genomic medicine, neurodevelopmental disorders, skeletal disorders, and multiple congenital anomalies.
  • Collaborates with national and international clinicians, scientists, diagnostic laboratories, and academic institutions for patient care and research.
  • Conducts regular teaching and training programmes for medical students, genetic counsellors, and PhD scholars, along with workshops, seminars, conferences, and continuing medical education programmes.
  • The Genetics Clinic is supported by a laboratory that brings clinical consultation, counselling, prenatal diagnosis, and advanced genomic testing together within a coordinated service.