What is CMA and Why It's the Recommended First-Tier Test

Chromosomal microarray analysis (CMA) is a high-resolution genomic diagnostic endorsed as the first-line test for individuals with developmental delay, intellectual disability, congenital anomalies, and autism spectrum disorder.

Unlike conventional karyotyping, which detects only large chromosomal rearrangements, Chromosomal Microarray Analysis (CMA) reliably identifies sub microscopic copy-number variants such as microdeletions and microduplications across the entire genome in a single assay.

This enhanced resolution substantially improves higher detection rate: while karyotype detects abnormalities in about 5-10% of affected children, CMA increases detection rates to roughly more than 15-20%, representing a three- to fourfold improvement. Leading professional organizations, including the American Academy of Paediatrics and the American College of Medical Genetics and Genomics, recommend CMA as the preferred initial test for unexplained developmental and congenital presentations.

Progenics employs clinically validated CMA platforms and has processed over 500+ patient samples, demonstrating robust, reproducible performance across diverse clinical indications. Integrating CMA into diagnostic workflows enables more precise genetic characterization, guides clinical management and surveillance, and supports family counseling and reproductive planning.

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Higher Detection Rate
0–0%
For Developmental Delay

Three-fold improvement over karyotype. Highest-yield single test for developmental delays and congenital anomalies.

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Accuracy
0.5%
Analytical Sensitivity

With 99.5% specificity. Exceptional accuracy makes CMA reliable for every clinical decision.

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Experience
0+
Samples Successfully Analyzed

Proven accuracy across diverse clinical presentations and patient populations.

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Turnaround Time
0–0
Working Days Sample to Results

Including expert geneticist interpretation and genetic counselor consultation. No delays.

CMA Clinical Applications

CMA is recommended as first-line test for developmental delays, congenital anomalies, and other genetic syndromes.

01
Developmental Delay & Intellectual Disability

Developmental Delay and Intellectual Disability often have chromosomal basis. CMA identifies microdeletions/duplications when standard testing is normal. 15-20% Higher Detection Rate makes CMA the highest-yield single test.

02
Autism Spectrum Disorder

Chromosomal Microarray (CMA) is a critical diagnostic tool for identifying chromosomal abnormalities associated with Autism Spectrum Disorder (ASD). It significantly improves diagnostic yield by 5–10% in cases where traditional karyotyping fails to detect.

03
Congenital Anomalies & Birth Defects

Children with multiple congenital anomalies, Developmental Delay and Intellectual Disability may have underlying chromosomal abnormalities that can contribute to their clincial presentation. CMA is recommended first-line test for congenital heart disease, cleft palate, and other birth defects.

04
Recurrent Pregnancy Loss

Chromosomal abnormalities are leading cause of recurrent miscarriages. CMA identifies rearrangements in couples experiencing pregnancy losses, enabling informed reproductive planning.

05
Intellectual Disability Unknown Cause

Intellectual Disability of unknown cause affects millions of individuals world wide. After standard evaluation, 50% remain undiagnosed. CMA often identifies chromosomal abnormalities explaining previously undiagnosed intellectual disability.

CMA vs. Other Genetic Tests

Feature CMA Karyotype FISH
Resolution 25 KB – 100 KB 5-10 MB ~1 MB
Whole Genome Yes Yes Limited
Detects CNVs Excellent Limited Limited
Cost Rs 18-25K Rs 5-8K Rs 5-10K
Turnaround Time 14-21 working days 7-10 working days 5-7 working days
Higher Detection Rate 15-20% 5-10% 3-5%

CMA Provides Best Balance of Yield, Cost, and Turnaround Time

Get CMA vs. Alternatives Guide

Why CMA is the Recommended First-Line Test

Five key advantages make CMA the standard of care for developmental delays and congenital anomalies.

CMA Standard

First-Line Diagnostic Tool

Major medical guidelines recommend CMA as the premier diagnostic test for developmental delays and congenital anomalies.

3x
Higher Higher Detection Rate

Higher Detection Rate

15-20% yield for developmental delay. Three-fold improvement over karyotype. Identifies causes other tests miss completely.

Genome-Wide Coverage

Analyzes all 46 chromosomes with high resolution. Detects abnormalities anywhere across genome. No pre-selection of regions needed.

Cost-Effective

Rs 18-25K makes CMA affordable. Higher yield than karyotype.

Clinical Standard

Recommended by American Academy of Pediatrics and American College of Medical Genetics. First-line test per major guidelines.

Reasonable Turnaround Time

14-21 working days from sample to results. Enables timely clinical decision-making.

How CMA Works

A transparent, scientifically rigorous process from sample to results.

1
Sample Collection
Blood sample in EDTA tube. POC sample in normal saline. No special preparation. Quality DNA extracted. QC performed.
2
DNA Preparation
High-quality DNA required. Labeling with fluorescent dyes. Preparation for microarray.
3
Microarray Hybridization
DNA hybridized to microarray chip. Thousands of probes across genome. Fluorescence scanning.
4
Data Analysis
Bioinformatic analysis of raw data. Copy number changes identified. Mapped to chromosomal locations.
5
Expert Interpretation
Expert review. Clinical context considered. Comprehensive report prepared.
Timeline: Sample to Results in 14-21 working days (including expert interpretation and genetic counselor consultation)

Why Choose Progenics for CMA

CMA expertise, clinical excellence, and personalized care.

Progenics Difference

Excellence in CMA Testing

We deliver comprehensive genomic profiling with unmatched accuracy, providing actionable insights.

500+
CMA Tests Analyzed

Expert Team

Board-certified multi-lingual genetic counselors and bioinformaticians specializing in chromosomal analysis.

Advanced Equipment

Latest-generation microarray instruments with highest resolution. Automated QC.

Comprehensive Counseling

Every CMA test includes genetic counselor consultation. Results explained in detail. Family implications discussed.

Personalized Service

Individual attention for each patient. Flexible payment plans. Ongoing support.

Success Stories

Real outcomes from patients who found answers through CMA.

"After 2+ years of developmental evaluation with no diagnosis, CMA identified the genetic cause. We finally understood what was happening. Intervention could be targeted and meaningful."
Arjun's Parents, Hyderabad
Genetic diagnosis + Targeted intervention enabled
"CMA identified a chromosomal duplication in our son with autism. Understanding the genetic basis helped us connect with support organizations and make informed family planning decisions."
Navya's Parents, Bangalore
Autism genetic cause identified + Family counseling enabled
"After four miscarriages, CMA found the problem. I'm a balanced translocation carrier. Now we understand the recurrence risk. We can plan our next pregnancy with knowledge and hope."
Mrs. Sharma, Delhi
Translocation identified + Reproductive counseling enabled

Frequently Asked Questions About CMA

Everything you need to know before getting started.

Chromosomal abnormalities are changes in the number or structure of chromosomes. They range from large changes like Down syndrome (extra chromosome) to tiny microdeletions/microduplications. Many genetic diseases result from chromosomal abnormalities, making their detection clinically important.
Karyotype looks at all 46 chromosomes but only detects large changes (5-10 million base pairs). CMA analyzes entire genome with much higher resolution (25 KB - 100 KB), detecting small microdeletions/duplications. CMA has three-fold higher Higher Detection Rate for developmental delay.
Completely safe. Simple blood sample like routine bloodwork. No side effects, no risk to your health. The testing itself is entirely safe.
CMA has 99.5% analytical sensitivity (correctly detects 99.5% of true abnormalities) and 99.5% analytical specificity (minimizes false positives). This exceptional accuracy makes CMA reliable for clinical decision-making.
14-21 working days from sample receipt. This timeline includes microarray analysis and expert interpretation by geneticists. Results include comprehensive genetic counselor consultation.

Ready to Determine if CMA is Right for You?

Schedule your free consultation with our genetic counselors. We'll discuss your clinical situation and recommend whether CMA is appropriate.

Schedule Free CMA Consultation Call: +91-8977751239 / +91-8977507781