Basic Cytogenetics and Karyotyping: Initial Step for Identification of Genetic Disease

Genetic disorders are conditions that arise from alterations in the DNA sequence, which can be inherited or occur spontaneously. These alterations may affect a single gene or multiple genes, and they can also be influenced by environmental factors. Knowledge about the importance of suitable cytogenetic tests, the challenges faced in cytogenetics, the importance of pre-investigation lab work, and post-lab communication are important for the establishment of any cytogenetic lab. Continuous medical education can help in upgrading the knowledge and skills of Medical Practitioners.

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Publication Details

Journal
Journal of the Epidemiology Foundation of India
Published
2024-09-30
DOI
https://doi.org/10.56450/jefi.2024.v2i03.003
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
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article

Basic Cytogenetics and Karyotyping: Initial Step for Identification of Genetic Disease

Surajit Ghatak, Nikha Bhardwaj
Journal of the Epidemiology Foundation of India
Genomic variations and chromosomal abnormalities
article

Basic Cytogenetics and Karyotyping: Initial Step for Identification of Genetic Disease

Surajit Ghatak, Nikha Bhardwaj
article en

Abstract

Genetic disorders are conditions that arise from alterations in the DNA sequence, which can be inherited or occur spontaneously. These alterations may affect a single gene or multiple genes, and they can also be influenced by environmental factors. Knowledge about the importance of suitable cytogenetic tests, the challenges faced in cytogenetics, the importance of pre-investigation lab work, and post-lab communication are important for the establishment of any cytogenetic lab. Continuous medical education can help in upgrading the knowledge and skills of Medical Practitioners.

Journal of the Epidemiology Foundation of IndiaVol. 2(3)
All India Institute of Medical Sciences Jodhpur (IN)
Openalex Percentile: Top 80%
Genomic variations and chromosomal abnormalities
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