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Department of Manipal Andrology and Reproductive Services (MARS)

Medical Genetics is defined as a specialised clinical genetics service integrated with a laboratory service which is provided for individuals with/ concerned about an inherited disorder with significant genetic component, and their families. In some cases, the genetic disorder may occur sporadically rather than being inherited. Genetic factors are gaining importance in the management of developmental abnormalities, neurological dysfunction, etc. Medical Genetics is acquiring priority in India, after achieving better healthcare for infectious and nutritional disease. Over 10,000 human genetic diseases are known to date and the number increases day-by-day. The overall incidence of single gene disorders is 1 in 100 and chromosomal abnormalities are 1 in 200 at birth.

Manipal Hospital, Bangalore is the only centre in South India that offers comprehensive in-house clinical services for Medical Genetics with state of art diagnostic laboratory under one roof. It is certified by Fetal Medicine Foundation (FMF) for biochemical screening for pregnant women, making its reports authentic and acceptable across the globe. The Department has collaboration with premier research institutions in India & Abroad. In its commitment to give patients a comprehensive and upto date medical care, Manipal Hospital has started the clinical and molecular cytogenetic division.

It offers services like clinical diagnosis and genetic counselling, peripheral blood karyotyping, prenatal diagnosis including FISH studies for rapid diagnosis, bone marrow studies in haemato oncological disorders, FISH Studies in instances of complex chromosomal re-arrangements and micro deletion syndromes such as congenital heart defects, 1st & 2nd trimester biochemical screening in pregnancy, karyotyping of product of conception (abortus) and , Molecular studies.

1. Will I (my family) be given a specific diagnosis?

All of your doctors are making every attempt to provide you with a diagnosis or to do testing to confirm a diagnosis that has been previously established. However, it is important to remember that we may not always able to provide a specific diagnosis or offer testing for a specific disease. Genetics is a field that is rapidly advancing but there is still much to discover.

2. How to collect sample for Karyotyping?

  • Peripheral Blood: 2 ml venous blood to be collected in heparin vacutainer tube or heparinised syringe
  • Bone Marrow: 1 to 2 ml bone marrow aspirate to be collected in heparinized syringe. (Rinse 5m1 disposable syringe with 0.5ml of heparin. Push out excess, retain little drop, draw sample into this syringe & mix gently. Sample must reach lab as early as possible).
    • Chorionic Villus & Abortus: Transport Media will be provided upon request.
    • Amniotic Fluid: 20 ml in sterile disposable syringe

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