Application of Microarrays in patients with cytogenetic rearrangements

Chromosomal Microarray Analysis (CMA) has transformed the way clinicians diagnose and understand chromosomal abnormalities. Unlike traditional cytogenetic methods such as karyotyping or FISH (Fluorescent In Situ Hybridization), microarrays offer extraordinary accuracy and precision in detecting chromosomal imbalances.

One of the landmark studies published in Nature Genetics demonstrated the value of microarray technology in clinical diagnostics of constitutional chromosome abnormalities. This pioneering research validated microarrays as a powerful tool in genetic testing and illustrated their ability to provide unparalleled detail when compared with conventional cytogenetic techniques.

🔗 Read the study in Nature Genetics

Why Microarrays are Superior to Traditional Cytogenetic Testing

Traditional techniques like karyotyping and FISH have long been used to identify chromosomal abnormalities. However, these methods have limitations:

• Karyotyping detects only large chromosomal changes (≥5–10 Mb).

• FISH is targeted, meaning it identifies only pre-specified chromosomal regions.

By contrast, chromosomal microarrays:

• Scan the entire genome at a much higher resolution.

• Detect submicroscopic chromosomal imbalances that cannot be seen by conventional methods.

• Offer precise breakpoint mapping, helping clinicians correlate genotype with phenotype.

Clinical Applications of Microarrays in Cytogenetic Rearrangements

Microarray testing is particularly useful for patients with:

• Unexplained developmental delay

• Congenital anomalies

• Intellectual disability

• Autism spectrum disorders

• Suspected chromosomal rearrangements

In such cases, microarrays provide a comprehensive picture of chromosomal imbalances, often revealing clinically significant variations missed by older methods.

The Landmark Nature Genetics Study

This landmark study was among the earliest validations of microarray technology in clinical diagnostics. Key findings included:

• Microarrays provided extraordinary precision in defining chromosomal abnormalities.

• They offered better resolution than karyotyping and FISH.

• Real clinical case studies illustrated how microarrays could redefine diagnosis, leading to more accurate patient management.

Since its publication, microarray technology has been extensively validated and globally adopted, becoming a first-line genetic test in many clinical settings.

LABASSURE Advantage in Microarray Testing

At LABASSURE, we use internationally validated high-resolution microarrays combined with expert clinical interpretation. This ensures that every report is:

• Accurate – based on advanced technology.

• Clinically relevant – with genotype–phenotype correlation.

• Actionable – guiding doctors and patients toward the best clinical decisions.

Key Takeaway

• Microarrays outperform karyotyping and FISH in detecting chromosomal imbalances.

• They are now a global standard in diagnosing cytogenetic rearrangements.

• The Nature Genetics study remains a cornerstone in validating the use of CMA in clinical practice.

• At LABASSURE, we deliver high-quality, clinically interpreted microarray reports, helping doctors and patients make informed decisions.

📧 For more details on Chromosomal Microarray Testing in India, contact us at info@labassure.com

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