Whole Exome Sequencing (WES) & Chromosomal Microarray (CMA-750K) Package in Sector-50, Noida

Test Overview 

When health conditions remain unexplained despite multiple tests, genetics often holds the missing piece. The Whole Exome Sequencing (WES) & Chromosomal Microarray (CMA-750K) Package in Sector-50, Noida is a powerful genetic testing combination designed to uncover hidden causes of inherited and developmental conditions.

This package analyzes your DNA to identify both small gene changes and significant chromosomal abnormalities, providing a more precise diagnosis when symptoms are complex or unclear. It is especially helpful for families seeking long-term solutions, not just temporary explanations.

What Is Whole Exome Sequencing (WES)?

Whole Exome Sequencing focuses on studying the exome, which includes all protein-coding genes in the body. These genes make up only about 1–2% of our DNA but are responsible for most known genetic disorders.
WES helps identify gene mutations associated with rare diseases, inherited conditions, metabolic disorders, and neurological disorders. Because it analyzes thousands of genes at once, it is far more detailed than single-gene tests and is often used when symptoms do not match common conditions.

What Is Chromosomal Microarray (CMA-750K)?

Chromosomal Microarray (CMA-750K) is a test that looks for significant genetic changes, such as missing or extra pieces of chromosomes. These changes are called copy number variations (CNVs).
CMA-750K can detect genetic imbalances linked to developmental delay, intellectual disability, autism spectrum disorders, and congenital anomalies. It offers much higher resolution than traditional karyotyping, making it a preferred first-line test for many genetic conditions.

Why Are WES and CMA-750K Done Together?

Here are some reasons why these are done together : 

• Genetic disorders can be caused by small changes in genes as well as significant changes in chromosomes
• Testing only one type of change may miss important genetic causes
• Whole Exome Sequencing (WES) identifies gene-level mutations
• Chromosomal Microarray (CMA-750K) detects significant chromosomal gains or losses
• The Whole Exome Sequencing (WES) & Chromosomal Microarray (CMA-750K) Package gives a more complete genetic overview
• Combining both tests improves diagnostic accuracy
• It helps avoid repeated or multiple genetic tests
• Supports better treatment planning and genetic counseling
  
  

Conditions That Can Be Detected Using This Package

This combined testing approach helps identify a wide range of conditions, including rare genetic syndromes, developmental delays, autism spectrum disorders, congenital anomalies, unexplained seizures, and inherited metabolic disorders.
It is also helpful for diagnosing conditions with overlapping symptoms when routine tests are inconclusive. The Whole Exome Sequencing (WES) & Chromosomal Microarray (CMA-750K) Package in Sector-50, Noida helps doctors understand the genetic root cause, guiding treatment and long-term care planning.

Difference Between WES and CMA-750K

Who Should Consider This Genetic Testing Package?

The following people are eligible for the test : 

• Individuals with unexplained or undiagnosed medical conditions
• Children with developmental delay, autism spectrum disorder, or intellectual disability
• Families with a history of genetic or inherited disorders
• Patients showing multiple symptoms affecting different organs
• Individuals with complex or unclear clinical presentations
• Patients whose routine or standard genetic tests were inconclusive
• Cases where doctors need a deeper genetic evaluation for an accurate diagnosis
• People advised by specialists to undergo the Whole Exome Sequencing (WES) & Chromosomal Microarray (CMA-750K) Package
  
  

Testing Procedure for Whole Exome Sequencing (WES) & Chromosomal Microarray (CMA-750K) Package in Sector-50, Noida 

The testing procedure for Whole Exome Sequencing (WES) & Chromosomal Microarray (CMA-750K) in Sector-50, Noida is simple and well-structured. A blood sample is usually collected from a vein in the arm, although in some cases saliva or a cheek swab may also be used. No fasting or special preparation is required before the test. The sample is sent to a certified genetic laboratory, where DNA is extracted under strict quality-control standards. 

Whole Exome Sequencing is then performed to identify gene-level mutations, while Chromosomal Microarray analysis is used to detect significant chromosomal changes. Advanced, internationally accepted laboratory methods are followed to ensure accuracy. The results are reviewed by genetic experts and interpreted along with the patient's clinical history. Reports are generally available within a few weeks, depending on the complexity of the analysis.

Normal Range & Result Interpretation for WES & CMA-750K

For Whole Exome Sequencing (WES) & Chromosomal Microarray (CMA-750K), there is no numerical "normal range" like blood tests. Instead, results are reported based on whether genetic changes are found. Below is the standard, clinically accepted interpretation table:

Note: A "normal" result does not always rule out a genetic condition. Results are always interpreted alongside clinical symptoms, family history, and the doctor's evaluation to support accurate diagnosis and next steps.

Conclusion

The Whole Exome Sequencing (WES) & Chromosomal Microarray (CMA-750K) Package in Sector-50, Noida provides a comprehensive, reliable approach to genetic diagnosis when answers are challenging to find. By combining two powerful technologies, it helps identify both small gene mutations and larger chromosomal changes. This leads to earlier diagnosis, better treatment decisions, and informed family planning. For patients and families seeking clarity, this comprehensive genetic testing package provides meaningful insights and long-term value. Get yourself tested with Redcliffe Labs for early diagnosis.