Fluorescent in-situ hybridization: A must for delineating subtle chromosomal alterations

Abstract

Suspected chromosomal disorders comprise the major portion of the referral for any genetics laboratory. The conventional cytogenetic analysis remains the most widely used method to establish an etiology in these disorders¹(gazzy). However, a large portion of the cases still remains undiagnosed for the reason that conventional cytogenetics cannot detect chromosomal changes of less than 5Mb. Therefore, Fluorescent in-situ hybridization (FISH) remains a method of choice to detect submicroscopic chromosomal alterations using specific probes.