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Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

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Related Experiment Video

Updated: Jul 5, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

[Problems of pre-analysis in genetic testing].

Mayu Takeda1, Tadao Funato

  • 1Department of Laboratory Science, School of Health Science, Faculty of Medicine, Kyoto University, Kyoto, Japan.

Rinsho Byori. the Japanese Journal of Clinical Pathology
|April 17, 2008
PubMed
Summary

Accurate genetic testing relies on rigorous pre-analytic processes, including proper sample handling and nucleic acid extraction. Quality assurance in genetic testing labs is crucial for reliable diagnostic results.

Area of Science:

  • Molecular Biology
  • Genetics
  • Biotechnology

Context:

  • Genetic testing is a rapidly advancing diagnostic tool for various disorders.
  • Ensuring quality assurance in genetic testing laboratories is essential.
  • Pre-analytic variables significantly impact genetic testing outcomes.

Purpose:

  • To highlight the critical role of pre-analytic processes in genetic testing.
  • To emphasize the need for standardized sample preparation and nucleic acid isolation.
  • To underscore the importance of quality control in genetic analysis.

Summary:

  • Accurate genetic testing depends on meticulous pre-analytic steps, including sample collection and nucleic acid purification.
  • Variations in sample handling can introduce bias and affect gene expression analysis.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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Last Updated: Jul 5, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

  • Implementing robust internal quality control programs is vital for reliable genetic testing.

    • Impact:

    • Improved accuracy and reliability of genetic diagnostic tests.
    • Enhanced understanding of pre-analytic variables in molecular diagnostics.
    • Foundation for developing standardized protocols in genetic testing laboratories.