Microarray testing is a first-tier diagnostic test for ladies undergoing invasive prenatal diagnostic procedures. The analysis is well-established and offers information pertaining to the copy number for changes that might be below the standard chromosome analysis’s resolution level. In this post, let’s learn everything about chromosomal and cytogenetic microarray analysis.
An Introduction to Chromosomal microarray analysis
CMA or chromosomal microarray analysis is the standard of care and clinical testing. The prime purpose of the analysis is to detect genomic copy number variation amongst patients having developmental disabilities.
The diagnostic yield is more prominent than traditional cytogenetic testing. Comparison with the existing clinical CMA database for determining the cases’ proportion encompassing the regions indicated that CMA diagnoses associated with the recommendations are discovered in around 7% of all cases.
The detail presented might get used for addressing barriers that continue resulting in inequities in patient access & care in accordance with CMA testing.
An Introduction to Cytogenomic Microarray Testing
Cytogenetic microarray analysis in India enables the detection of sub-microscopic genomic rearrangements. It’s commonly denominated CNVs or copy number variations that get implicated with multiple neurodevelopmental disorders, congenital anomalies, dysmorphic features, solid and hematological tumors, as well as complicated disorders & traits in both animals and humans.
On the flip, the approach gets widely used for identifying structural variations that get applied as the biomarker in agriculture, animal selection, pharmacogenomics, and breeding. The CMA or chromosomal microarray analysis gets applied for decades to screen for sub-microscopic genomic losses as well as gains in the DNA sample in both functional as well as diagnostic scenarios.
Things That Chromosomal Microarray Can Detect
CMA or chromosomal microarray testing looks for duplicated or deleted (extra or missing, respectively) chromosomal segments called CNVs or copy number variants. They include:
- Maximum chromosome number abnormalities (monosomy, trisomy, etc.), such as Down syndrome
- Microdeletions as well as micro duplications of chromosome segments that are small to view under the microscope but contain multiple genes
- Maximum unbalanced rearrangements of chromosome structure (such as translocations and more.)
Based on the platform, CMA might detect:
- Excessive homozygosity that is suggestive of complications or risks for recessive diseases or even imprinting disorder
- Triploidy or any other duplications of the whole chromosome set
With traditional karyotype, a mixture of abnormal and normal cells of greater than 20 to 25% might get detected by the CMA testing. Detection rates may vary with specified testing platforms.
The Working Procedure of CMA
Microarray is the microchip-based testing platform, allowing high-volume, and automated analysis of multiple DNA pieces all at once. The CMA chips make the right use of probes or labels, bonding to specified chromosome regions. Computer analysis gets used for comparing the patient’s genetic material to the reference sample. A difference between the patient’s DNA & reference sample is the variant.
Benefits of the Testing
Besides microarray testing in the pregnancy period, CMA is useful for people who do not fit any particularly known syndrome but demonstrate any of the given ones:
- Development delay or intellectual impairment
- Multiple congenital anomalies, such as dysmorphic facial features
- Autism spectrum disorders
For cytogenetic analysis in India, consult the team of Genes2me. This lab offers testing services for PND QF PCR Test, PND Karyotyping, and PND FISH Test. Learn the Chromosomal Microarray Analysis Cost in India from this lab.
