Medical Genetics - V. M. Zaporozhan 2005

Methods of diagnosing hereditary diseases
Cytogenetic methods
Efficacy of cytogenetic methods

The modern Classification of the main Cytogenetic Methods can be represented as follows.

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Table 10.1 presents data on the efficacy of various cytogenetic methods for diagnosing chromosomal abnormalities.

Table 10.1. Efficacy of various cytogenetic methods in the Diagnosis of chromosomal pathology (T. B. Zerova-Lyubimova, N. G. Gorovenko, 2003)

Main cytogenetic methods

Proportion of chromosomal pathology detectable using this technique, %

Karyotyping with routine staining

30

G-banding and other differential staining methods for metaphase Chromosomes

60

Prometaphase chromosome analysis (high-resolution banding)

75

Molecular Cytogenetic Methods (FISH assay)

Up to 95-99


Last update: 11/08/2026

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