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DNA Labs India

Whole Exome Sequencing + Chromosomal Microarray Test

DNA Labs India | ISO 9001:2015 Certified

Whole Exome Sequencing + Chromosomal Microarray Test

Short Name: WES + CMA

Also known as: WES and CMA, Exome Sequencing with Microarray, Whole Exome + Chromosomal Microarray

Whole Exome Sequencing + Chromosomal Microarray Test test available at DNA Labs India for ₹42,000. Uses Next-Generation Sequencing (NGS), Chromosomal Microarray Analysis (CMA) on Blood samples. Results in Results are typically delivered within 4-6 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

GeneticAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of combining Whole Exome Sequencing and Chromosomal Microarray is to identify the underlying genetic cause of a patient's symptoms when standard diagnostic tests have been inconclusive. WES can detect single nucleotide variants and small insertions/deletions in genes, while CMA can detect copy number variations (CNVs) such as microdeletions and microduplications. Together, they provide a higher diagnostic yield than either test alone, enabling accurate diagnosis, informed prognosis, and personalized management plans. This combined approach is particularly valuable in pediatric neurology, clinical genetics, and prenatal diagnostics.

Test Code
6297
CPT Code
81415, 81229
ICD Code
Z01.89
Price
₹42,000
Sample Type
Blood
Result Time
Results are typically delivered within 4-6 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Chromosomal Microarray Analysis (CMA)
Step 1

Sample Collection

No special preparation is required. Inform your doctor about any medications, supplements, or recent blood transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm. The procedure is quick and routine.

Step 3

Report Delivery

You may resume normal activities immediately. There are no restrictions after blood collection.

Timeline: Results are typically delivered within 4-6 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. However, genetic counseling is recommended before the test to understand the potential outcomes and implications.
2
During the Test:A blood sample is collected by a trained phlebotomist. The procedure takes about 5 minutes.
3
After the Test:You can resume normal activities. Results will be available in 4-6 weeks. A genetic counselor will discuss the results with you.

About This Test

Who Should Get This Test

The purpose of combining Whole Exome Sequencing and Chromosomal Microarray is to identify the underlying genetic cause of a patient's symptoms when standard diagnostic tests have been inconclusive. WES can detect single nucleotide variants and small insertions/deletions in genes, while CMA can detect copy number variations (CNVs) such as microdeletions and microduplications. Together, they provide a higher diagnostic yield than either test alone, enabling accurate diagnosis, informed prognosis, and personalized management plans. This combined approach is particularly valuable in pediatric neurology, clinical genetics, and prenatal diagnostics.

How to Prepare

  • No fasting required
  • Avoid alcohol for 24 hours before the test
  • Inform the lab if you have had a blood transfusion in the past 2 weeks
  • For infants, a heel prick may be used

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Combining WES and CMA provides a comprehensive evaluation for patients with undiagnosed genetic conditions, improving diagnostic yield and guiding management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA (purple top) tube
Collection MethodVenipuncture

Sample Stability

Whole blood: 72 hours at 2-8°C
Extracted DNA: 1 year at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect tube (e.g., heparin instead of EDTA)
  • Insufficient sample volume
  • Sample received after 72 hours without proper storage

Understanding Your Results

The results of WES and CMA are interpreted by clinical geneticists and molecular pathologists. Findings are classified according to ACMG guidelines as pathogenic, likely pathogenic, uncertain significance, likely benign, or benign. A positive result may confirm a diagnosis, while a negative result does not rule out a genetic cause.
📊

Pathogenic variant in a gene associated with the patient's phenotype

Confirms the genetic diagnosis; enables targeted management and family testing

📊

Copy number variant (deletion/duplication) of known clinical significance

Identifies the cause of the condition; may guide prognosis and recurrence risk

📊

Variant of uncertain significance (VUS)

Requires further investigation; may be reclassified with additional data

📊

No clinically significant variants

Does not exclude a genetic cause; further testing may be considered

⚠️ When to Consult a Doctor:

Consult your doctor if you have a family history of genetic disorders, if you have unexplained symptoms that may be genetic, or if you are planning a family and have concerns about inherited conditions.

Limitations

  • ⚠WES does not detect all types of mutations (e.g., large structural variants, trinucleotide repeat expansions, mitochondrial DNA variants)
  • ⚠CMA cannot detect balanced rearrangements or point mutations
  • ⚠Some variants may be classified as variants of uncertain significance (VUS)
  • ⚠Not all genetic disorders are caused by mutations in the exome or detectable by CMA
  • ⚠Results may not always identify a causative mutation

Risks & Considerations

  • ●Bruising or bleeding at the puncture site
  • ●Infection (rare)
  • ●Psychological impact of results
  • ●Potential for incidental findings

Interfering Factors

  • ●Poor DNA quality from degraded samples
  • ●Contamination during sample collection
  • ●Recent blood transfusion (within 2 weeks) may affect results
  • ●Bone marrow transplantation can lead to mixed DNA results

Compare With Similar Tests

TestWhole Exome Sequencing + Chromosomal MicroarrayKaryotypingTargeted Gene PanelWhole Genome Sequencing (WGS)
ComparisonWhole Exome Sequencing + Chromosomal Microarray

Frequently Asked Questions

What is the cost of Whole Exome Sequencing + Chromosomal Microarray in India?
The cost is INR 42000, which includes both tests and analysis.
What is the difference between WES and CMA?
WES analyzes the protein-coding regions of genes for mutations, while CMA detects structural changes in chromosomes such as deletions or duplications.
Why are WES and CMA done together?
They complement each other: WES detects single gene mutations, CMA detects copy number changes. Together they increase diagnostic yield.
Is fasting required for this test?
No, fasting is not required.
What sample is needed?
A blood sample (5 mL in an EDTA tube) is required.
How long does it take to get results?
Results are typically available in 4-6 weeks.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across India.
What does a positive result mean?
A positive result means a genetic cause has been identified, which can help guide treatment and management.
What if the result is negative?
A negative result does not rule out a genetic cause; further testing or reanalysis may be recommended.
Are there any risks?
The test is safe; only minor risks like bruising at the needle site may occur.
Can this test be done on children?
Yes, it can be performed on individuals of any age, including infants.
Will insurance cover the cost?
Coverage varies; please check with your insurance provider. We also offer a discounted price of Rs 42000.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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