Omar Bennett
Microarray analysis is a technique used to identify chromosomal abnormalities that cause genetic disorders. It is also known as chromosomal microarray, whole-genome microarray, array comparative genomic hybridization (array CGH or aCGH), or SNP microarray. This technique compares a patient's blood, saliva, or tissue sample to a normal control sample to detect small missing or extra chromosome pieces that cannot be seen under a microscope. The results obtained using microarray analysis are correlated with decades of clinical genetic knowledge and publicly available information from the Human Genome Project. The American College of Medical Genetics and Genomics (ACMG) has developed standards and guidelines for constitutional cytogenomic microarray analysis, recommending that the analysis be performed and interpreted by certified clinical cytogeneticists or molecular geneticists.
| Characteristics | Values |
|---|---|
| Test Type | Microarray Analysis Test, Chromosomal Microarray, Whole Genome Microarray, Array Comparative Genomic Hybridization (array CGH or aCGH), SNP Microarray |
| Sample Type | Blood, Saliva, Tissue |
| Objective | Identify chromosomal abnormalities, including aneuploidy (extra or missing chromosomes) and structural aberrations (deletions, duplications, gains, losses, translocations, inversions, insertions, marker chromosomes) |
| Applications | Prenatal diagnosis, postnatal diagnosis, evaluation of intrauterine fetal demise or stillbirth, cancer research, congenital disorders, neoplastic disorders, hematologic malignancies, solid tumors |
| Benefits | Comprehensive coverage of cytogenetically relevant genes, enhanced patient care, flexible power for whole-genome sequencing, ability to detect imbalances associated with genetic constitutional disorders |
| Guidelines | ACMG Standards and Guidelines recommend analysis be performed and interpreted by certified professionals (clinical cytogeneticists, clinical molecular geneticists, molecular genetic pathologists) |
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What You'll Learn
Microarray analysis can be used to identify chromosomal abnormalities
Microarray analysis, also known as chromosomal microarray, whole genome microarray, array comparative genomic hybridization (array CGH or aCGH), or SNP microarray, is a powerful tool for identifying chromosomal abnormalities. It is a high-resolution, whole-genome screening technique that can detect chromosomal imbalances and structural abnormalities that may be too small to visualise with a microscope or through conventional karyotyping.
Chromosomes are thread-like structures found within the cells of our bodies, containing thousands of genes made up of DNA. Typically, each chromosome in a pair differs slightly, as one copy comes from each parent. However, chromosomal abnormalities can arise when both copies of a chromosome are inherited from a single parent, resulting in large regions of homozygosity. Microarray analysis can identify these abnormalities by comparing a patient's sample, usually a blood sample, with a normal control sample.
Microarray analysis is particularly useful in prenatal diagnosis and the evaluation of intrauterine fetal death or stillbirth. It can detect chromosomal aneuploidy, which involves extra or missing chromosomes, and structural aberrations such as deletions, duplications, translocations, or inversions. These abnormalities can lead to various health issues, including birth defects, seizures, developmental delays, learning difficulties, and autism.
Additionally, microarray analysis can identify submicroscopic abnormalities referred to as copy number variants (CNVs). CNVs are duplicated or deleted sections of DNA that differ from the reference genome. While not all CNVs are clinically significant, they may contribute to a range of human disorders, including neurodevelopmental disorders and congenital anomalies such as cardiac defects.
The use of microarray analysis in prenatal diagnosis is recommended by some clinical providers as a first-line test when fetal chromosomal analysis is planned. It offers a quicker turnaround time compared to conventional karyotyping, as it can be performed on uncultured DNA samples and does not require actively dividing cells.
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It can be used to detect congenital disorders
Microarray analysis, also known as chromosomal microarray, whole genome microarray, array comparative genomic hybridization (array CGH or aCGH) or SNP microarray, is a test used to detect congenital disorders. It can identify small missing or extra pieces of chromosome material that cannot be seen under a microscope. This is done by comparing the patient's DNA with a reference sample.
Microarray analysis is particularly useful for detecting imbalances in copy number and allelic homozygosity, which are commonly associated with congenital disorders. It can also detect variations that may be missed by other technologies, such as traditional cytogenetic methods, which are unable to assess allelic homozygosity.
The American College of Medical Genetics and Genomics (ACMG) has published standards and guidelines for the use of microarray analysis in the postnatal and prenatal detection of congenital anomalies. Microarray platforms may have probes targeted to specific regions of the genome known to be associated with congenital anomalies or distributed in a genome-wide manner. The functional resolution of an array is determined by the intermarker probe spacing and the number of consecutive probes needed to identify a true copy number variation.
The results of microarray analysis are correlated with decades of clinical genetic knowledge and publicly available information from the Human Genome Project. The expertise required for performing and interpreting microarray data is similar to the skill set and experience needed for the interpretation of karyotypes and FISH by clinical cytogeneticists.
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Microarray analysis can be used in cancer research
Microarray analysis, also known as chromosomal microarray, whole genome microarray, array comparative genomic hybridization (array CGH or aCGH) or SNP microarray, is a versatile tool with a wide range of applications in cancer research.
Microarray analysis is used to identify differences in gene expression between normal cells and cancerous cells. This technology can help distinguish specific subtypes of certain cancers and determine the most effective treatment methods for individual patients. By examining the expression of thousands of genes simultaneously, microarrays provide detailed insights for physicians, enabling them to make more informed decisions.
In breast cancer research, microarrays are used to monitor chromosome gains and losses, classify tumours, aid in drug discovery and development, facilitate DNA resequencing, detect mutations, and investigate the mechanisms of tumour development. For example, microarray studies have revealed that certain regions of the genome previously discounted as loci containing important cancer genes may be highly amplified and thus critical in breast cancer development.
Microarray analysis has also been applied to the analysis of primary cancer specimens, allowing for the distinction between cancerous and non-cancerous specimens. Additionally, techniques such as laser capture microdissection (LCM) have been employed to obtain high-quality microarray profiles from primary breast carcinomas.
Furthermore, microarrays have been instrumental in gaining insights into the correlation between gene expression changes and cancer treatment outcomes. For instance, studies have examined the relationship between gene expression patterns and clinical outcomes in patients with lymphomas or diffuse large B-cell lymphomas (DLBCLs). These studies have helped clarify "muddy diagnostic categories" and have laid the foundation for the development of individualized medicine.
The versatility and analytical power of microarray analysis make it a valuable tool in cancer research, enabling advancements in our understanding of cancer genetics and the development of more personalized treatment approaches.
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It can be used for prenatal diagnosis
Cytogenomic constitutional genome-wide microarray analysis, also known as chromosomal microarray analysis, is a method of measuring gains and losses of DNA throughout the human genome. It is used to identify chromosomal aneuploidy (extra or missing chromosomes) and other large structural changes in chromosomes. This analysis can be used for prenatal diagnosis to detect genetic abnormalities in a fetus.
Chromosomal microarray analysis is a powerful tool for prenatal diagnosis, offering several advantages over traditional methods such as karyotyping. It can detect submicroscopic abnormalities that are too small to be identified by standard karyotype analysis. This is particularly useful in cases of fetal structural anomalies, stillbirth, or congenital anomalies, where genetic abnormalities may be present. By comparing the fetal DNA with a normal reference DNA sample, microarray analysis can identify duplicated or deleted sections of DNA, known as copy number variants (CNVs). These CNVs may be pathogenic and associated with genetic diseases or disorders.
The analysis can be performed using single-nucleotide polymorphism (SNP) arrays or comparative genomic hybridization (CGH) arrays. SNP arrays leverage the power of SNP genotypes to detect imbalances in copy number and allelic homozygosity, which are often associated with genetic constitutional disorders. CGH arrays, on the other hand, compare the fetal DNA sample with a normal reference sample using fluorescent dyes and bioinformatics tools. Both methods provide valuable information about the fetal genome.
Prenatal diagnosis using chromosomal microarray analysis typically involves the use of fetal samples obtained through amniocentesis or chorionic villus sampling (CVS). It is recommended that providers discuss the benefits and limitations of this analysis with patients considering these procedures, ensuring informed consent. Additionally, pre- and post-test counseling by trained genetic counselors or geneticists is essential to interpreting the complex results and understanding their implications.
In conclusion, cytogenomic constitutional genome-wide microarray analysis is a valuable tool for prenatal diagnosis, offering enhanced detection of genetic abnormalities and providing comprehensive information about the fetal genome. Its use in prenatal settings has transformed the care and counseling provided to pregnant women, empowering them with valuable genetic insights about their fetus.
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Microarray analysis can be used to detect neoplastic disorders
Microarray analysis, also known as chromosomal microarray, whole genome microarray, array comparative genomic hybridization, or SNP microarray, is a powerful tool for detecting chromosomal abnormalities and alterations in gene expression patterns. This analysis can be used to identify neoplastic disorders, which are characterised by uncontrolled cell growth and can lead to solid or liquid tumours.
Neoplastic disorders, including cancers, are characterised by uncontrolled cell growth and division, which can lead to the formation of tumours. Microarray analysis is a valuable technique for detecting and understanding these disorders. By examining thousands of genes simultaneously, microarrays can identify specific subtypes within an overall disease category, such as cancer. This allows physicians to determine the most effective treatment methods for individual patients, improving therapeutic outcomes.
The process of microarray analysis involves comparing a patient's sample, typically a blood sample, with a normal control sample. This enables the detection of very small missing or extra chromosome pieces that are invisible under a microscope. These chromosomal abnormalities, including aneuploidy and structural aberrations, can provide insights into the underlying causes of neoplastic disorders.
Additionally, microarray analysis can reveal gene expression patterns that are unique to neoplastic disorders. By comparing the gene expression of cancerous cells with that of normal cells, researchers can identify distinct signatures associated with specific types of cancer. This information is crucial for accurate diagnosis and classification and the development of targeted therapies.
The use of microarray analysis has enhanced patient care by providing detailed genomic data. This data assists in the identification of genetic abnormalities associated with neoplastic disorders, allowing for improved diagnosis, classification, and treatment. The development of DNA microarrays has been a key advancement in the fight against cancer, offering the potential for patient-specific, highly individualised medical care.
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Frequently asked questions
Cytogenomic constitutional genome-wide microarray analysis is a technique used to identify chromosomal abnormalities that can cause medical conditions in children.
Chromosomal abnormalities are structural aberrations such as deletions, duplications, translocations, inversions, insertions, or marker chromosomes. They can also be aneuploidy, which is when there is an extra or missing chromosome.
Microarray analysis compares a patient's sample, typically a blood sample, to a normal control sample to detect very small missing or extra chromosome pieces that cannot be seen under a microscope.
Microarray analysis provides important genomic data for the diagnosis, prognosis, and therapy of neoplastic disorders, including hematologic malignancies and solid tumors. It is also a useful tool for cancer and congenital disorders research.
The American College of Medical Genetics and Genomics recommends that microarray analysis be performed and interpreted by individuals with appropriate professional training, such as certified clinical cytogeneticists or clinical molecular geneticists.
