Rational Selection of Genetic Tests in Clinical Practice Part II - Molecular Diagnosis

Authors

  • V H Sankar SAT hospital & Child Development Center (CDC), Government Medical College, Thiruvananthapuram
  • Santhi Saraojam Genetic Laboratory, CDC, Thiruvananthapuram

DOI:

https://doi.org/10.52314/fnb.2021.v1i2.18

Keywords:

PCR, Sequencing, MLPA Methylation PCR, TP-PCR NGS, Exom sequencing

Abstract

Advances in the fields of molecular medicine and genetic engineering have found applications in clinical practice in the form of diagnosis, treatment and prevention of genetic disorders. Genetic disorders can be broadly classified into three categories: Chromosomal disorders, Single gene disorders and multifactorial disorders. During evaluation of a suspected genetic disorder, apart from hematological, biochemical and radiological investigations we have to use some specialized investigations. In this second part of this review article we are describing various molecular genetic methods used for the diagnosis.

Author Biographies

V H Sankar , SAT hospital & Child Development Center (CDC), Government Medical College, Thiruvananthapuram

MD DM, Professor of Paediatrics & Geneticist, Department of Paediatrics

Santhi Saraojam, Genetic Laboratory, CDC, Thiruvananthapuram

PhD,  Research Associate & Cytogeneticist

Published

2021-10-14

How to Cite

1.
Sankar VH, Saraojam S. Rational Selection of Genetic Tests in Clinical Practice Part II - Molecular Diagnosis. FNB [Internet]. 2021 Oct. 14 [cited 2021 Oct. 25];1(2):38-42. Available from: https://www.fetusandnewborn.com/journal/index.php/fnb/article/view/18