North Karnataka has a unique culture, customs and socio-demography. Consanguineous marriage is a traditional practice in many communities around the world. Consanguineous marriage continues to be common due to tradition & socioeconomic factors. Besides, we come across many disorders related to genetic counselling are necessary to improve health care. As a Health Science University, genetic analysis, detection of genetic abnormalities and research into untouched domains is an equally important function. With these issues as an area of focus, we established the BLDE (Deemed to be University) Genetics Laboratory in the Department of Anatomy on October 2015 with the primary objective of Chromosome analysis & Genetic Counseling. BLDE (Deemed to be University) Genetics Laboratory is the first of its kind Genetics Lab in this part of Karnataka.
To be a centre of excellence in human genetics which conducts research, trains researchers, provides advanced diagnostic & counseling services to the needy.
- To understand the basic research in human genetics, the molecular genetic basis of chromosomal, neurological, psychiatric & other rare genetic disorders.
- To explore the molecular biological basis of growth factors.
- To train students, staff and researcher in molecular genetic research methodologies.
- To provide advanced diagnostic service and genetic counselling to the patients and their families.
Vision & Mission
To gain excellence in the areas of Cell culture, Molecular Genetics and Molecular Diagnosis. Perform advanced research in Genetic aspects of disorders. Impart training on genetic research methodologies and molecular genetic platforms. Provide Genetic diagnostic testing and genetic counselling.
Research Work at BLDE (Deemed to be University) Genetics Laboratory
Chromosome analysis is also called karyotyping, it is a technique that allows geneticists to visualise chromosomes under a microscope. The chromosomes can be seen using proper extraction and staining techniques when the chromosomes are in the metaphase portion of the cell cycle. Detecting chromosomal abnormalities is essential for prenatal diagnosis, detection of carrier status for certain genetic diseases or traits, and for general diagnostic purposes.
Purpose of Karyotyping
Karyotyping is performed to review the genetic sequencing of a person to make sure that the person does not have defective genetic material, which could lead to severe deformities or mutations that would affect the development of a person or otherwise affect the person negatively throughout their lives.
- To demonstrate a microtechnique for reliable chromosomal analysis of leucocytes obtained from peripheral blood.
- To prepare a karyotype from the chromosomes of human male or female.
- To use the Karyotyping techniques for diagnosing a chromosomal disorder.
- A karyotype can be used to visualise abnormalities in the chromosomes, such as an incorrect number of chromosomes, deletions, insertions, or translocations of DNA.
BLDE (Deemed to be University) Genetics Laboratory Equipments
- Laminar Air Flow
- Co2 Incubator.
- Olympus miscoscope with GenASIs Software.
- Remi Centrifuge.
- Water Bath.
- Digital Weighing Balance.
- Slide Chamber
- Hot Plate
Chromosomal analysis can be carried out for following disorders
- Down’s Syndrome with trisomy 21 (47, XY, +21)
- Patau Syndrome with Trisomy 13, XX
- Edwards Syndrome with trisomy 18 (47, XY, +18).
- Klinefelter’s syndrome with a 47, XXY
Genetic Counseling is a type of Counseling where it requires the information of genetic disorder regarding etiology, its presentation, treatment options, prognosis, mechanism of inheritance, prevention and recurrence risk for future problems, wherever possible.
Purpose of Genetic Counseling
- Multifactorial Disorders
- Abnormal Chromosomal Reports.
- History of Multiple Congenital Anomalies
- Genetic Disorders
- Pre-conceptional Counseling
- Premarital Counseling