Chromosomal microarray analysis
Chromosomal Microarray Analysis (kroh-muh-soh-muhl my-kroh-uh-rey uh-nal-uh-sis) is a type of Genetic Testing that can detect a wide range of Genetic Abnormalities. It is a powerful tool used in the field of Genetics and Genomic Medicine to identify small Chromosomal Deletions and Chromosomal Duplications that are often not visible under a microscope during a routine Karyotype analysis.
Etymology
The term "Chromosomal Microarray Analysis" is derived from the words "chromosome", "microarray", and "analysis". "Chromosome" comes from the Greek words "chroma" meaning color and "soma" meaning body. "Microarray" is a term used in molecular biology to refer to a method used to detect large amounts of biological material. "Analysis" comes from the Greek word "analusis" which means a breaking up or a loosening.
Procedure
Chromosomal Microarray Analysis involves the extraction of DNA from a patient's blood or tissue sample. The DNA is then fragmented and applied to a microarray, a small, solid-phase matrix where thousands of different DNA Probes are attached at fixed locations. The patient's DNA binds to these probes, and the pattern of binding is analyzed to identify any chromosomal abnormalities.
Applications
Chromosomal Microarray Analysis is used in a variety of clinical settings, including Prenatal Diagnosis, Pediatric Genetics, and Oncology. It can detect a wide range of genetic abnormalities, including Copy Number Variations, microdeletions, and microduplications. It is also used in research settings to study the genetic basis of disease.
Limitations
While Chromosomal Microarray Analysis is a powerful tool, it does have limitations. It cannot detect balanced translocations or inversions, and it may not detect small deletions or duplications. It also cannot determine the exact location of a detected abnormality on the chromosome.
See Also
- Genetic Testing
- Karyotype
- DNA Probes
- Copy Number Variations
- Microdeletion Syndrome
- Microduplication Syndrome
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