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Cytogenetic Microarray and Chromosomal Microarray Analysis in India

If you want to learn about cytogenetic microarray and chromosomal microarray analysis, learn from this post.

Understanding Cytogenetic Microarray Analysis: What’s the Purpose?

The Cytogenetic Microarray Analysis in India is an advanced testing method, allowing the detection of cytogenetic imbalances that are generally smaller than what gets detected through regular chromosome analysis.

The method serves as an invaluable tool for diagnosis in patients with different indications. It’s when the chromosomal imbalance is suspected but can’t be detected via a conventional chromosome practice. But how does cytogenetic microarray testing work?

The analysis encompasses the use of DNA microarray technology for detecting imbalances in:

  • Over 150 regions of micro-duplication or microdeletion syndromes
  • sub-telomeric regions
  • pseudo autosomal regions and around the genome

Microarray gets completed via the Infinium Assay with the Illumina HumanOmni1-quad DNA Analysis Bead Chip platform. The SNP array involves the DNA from over one million probes and covers all 24 chromosomes.

Who Should Opt for Cytogenetic Microarray Testing?

According to statistics, around 10% of kids experiencing inexplicable developmental or intellectual disabilities & dysmorphic symptoms will have abnormalities or disorders in children, and adults get detected through cytogenetic microarray testing. In fact, abnormalities in fetuses can also be detected through microarray testing in pregnancy periods.

But in general, microarray testing can be performed in patients having suspected chromosome imbalance. It may include patients with these issues:

  • Delay in development
  • Cognitive or Intellectual delay
  • Malformations or congenital anomalies
  • Dysmorphic features

If the chromosome analysis is perfectly normal, cytogenetic microarray analysis is recommendable as the next step until and unless the genetic condition is ever suspected. It’s also recommendable for the evaluation of any unexplained developmental or intellectual delay.


Balanced chromosomal rearrangements & mosaic chromosomal imbalances might result in developmental disabilities as well as congenital abnormalities or dysmorphic features in patients. However, the changes cannot get detected via microarray. Thus, a physician must order chromosome analysis before opting for microarray testing.

Genetic conditions might be caused by DNA imbalances and point mutations or specified genetic changes. When any specified genetic diagnosis gets suspected, it is the right time to consult a laboratory for any additional testing.

Microarray testing identifies polymorphisms that are common considering the general population. And these might not get associated with the patient’s features. Analysis of biological parents’ condition through testing might be requested to aid with the clinical interpretation of the results.

Understanding Everything about Chromosomal Microarray Analysis

CMA or chromosomal microarray analysis is a technology implemented for detecting the clinically significant duplications or microdeletions with high sensitivity for sub-microscopic aberrations. It can detect small changes (like 5-10Kb in) and large ones that are 1000 times higher than conventional karyotyping.

In short, CMA uncovers the CNVs or copy number variants thought to play a significant role in the pathogenesis of a variety of disorders like:

  • Neurodevelopmental disorders
  • Congenital anomalies

CMA might get applied in the postnatal or prenatal setting with benefits & limitations in every setting. However, the growing use of the CMA makes it imperative for practicing doctors to comprehend the principles of the technology.

How does the Analysis Work?

DNA from samples get prepared & hybridized to the glass slide on which the molecular probes are arrayed. The probes comprise small DNA segments that correspond to clinically significant regions that cover the whole genome. The microarrays comprise over two million DNA probes.

The hybridization pattern’s computerized test on the slide reveals the DNA copies corresponding to every probe location. Thus, the analysis diagnoses duplications and deletions of the chromosomes, their portions, and locations where CNVs or copy number variants get associated with the genetic diseases.

Types of Disorders a Chromosome Microarray Analysis Can Diagnose

Given below are the types of disorders the chromosome microarray testing will diagnose:

  • The chromosomal cause for the pregnancy loss is when the fetal tissue of conception doesn’t have viable cells
  • Fatal anomalies detected by the ultrasound when chromosome testing on a prenatal diagnosis sample is normal
  • The genetic etiology for an adult, child, or infant having mental retardation without or with any physical abnormality or any birth defect (congenital malformations or congenital disorders)
  • Micro duplication or microdeletion syndromes detected on the sample of routine prenatal diagnosis

Microarray analysis can detect unbalanced chromosome abnormalities. So, blood chromosome testing for both individuals in the marital relationship with recurrent pregnancy loss is imperative. Genetic information might be obtained with a few microarray types, such as suspected consanguinity/uniparental disomy.

Microarray testing doesn’t identify genetic disorders. So, it cannot detect the sequence variations (for instance, point mutations), a significant cause of the dominant, X-linked, or recessive disorders.

Take Consultation from Genes2me Today

If you want to learn more about the chromosomal microarray analysis cost in India, consult Genes2me today. The lab provides testing solutions in categories like personalized genetic testing, oncology, and more.

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