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Current applications of molecular cytogenetic technologies
H F Mark1, R Jenkins, W A Miller
1Laboratory of Cytogenetics, FISH & Genotoxicology, Rhode Island Hospital, Providence 02903, USA.
Annals of Clinical and Laboratory Science
|January 1, 1997
Summary
This review highlights current applications of fluorescent in situ hybridization (FISH) in clinical cytogenetics, focusing on cancer diagnostics and prenatal testing. It covers FISH utility in breast and prostate cancers, common aneuploidies, and microdeletion/duplication detection.
Area of Science:
- Molecular Cytogenetics
- Clinical Diagnostics
Background:
- Fluorescent in situ hybridization (FISH) is a powerful molecular cytogenetic technique.
- Its utility extends to various clinical laboratory applications, particularly in genetic diagnostics.
Purpose of the Study:
- To review current applications of FISH technology relevant to clinical cytogenetic laboratories.
- To focus on FISH utility in cancer diagnostics (breast, prostate) and prenatal diagnosis.
- To discuss quality assurance and guidelines in molecular cytogenetic testing.
Main Methods:
- Review of current literature and established FISH applications.
- Focus on specific disease areas: breast cancer, prostate cancer, and prenatal diagnosis.
- Examination of FISH for detecting aneuploidies and copy number variations.
Main Results:
- FISH is applicable for diagnosing common aneuploidies (e.g., trisomy 21, 18, 13) and sex chromosome aneuploidies in prenatal samples.
- FISH effectively detects microdeletions and microduplications.
- FISH plays a significant role in the molecular diagnosis of breast and prostate cancers.
Conclusions:
- FISH is a valuable tool for routine clinical cytogenetic laboratories.
- FISH applications in cancer and prenatal diagnosis are well-established and expanding.
- Adherence to quality assurance standards is crucial for reliable molecular cytogenetic testing.