Clinical · Diagnostics
Illumina 750K BeadChip

Chromosomal MicroArray (CMA)

High-Resolution Chromosomal Analysis for Children & Adults.

Chromosomal MicroArray (CMA) is now the gold-standard first-line genetic test for diagnosing unexplained developmental delays, intellectual disabilities, autism spectrum disorders, and congenital anomalies. Using Illumina's 750K BeadChip technology, CMA detects chromosomal changes as small as 2.3 kB — far beyond what traditional karyotyping can see — across 750,000+ markers covering approximately 9,000 genes, giving families and doctors the answers they need to plan the right care.

5.0 (Verified clinical test) NABL & CAP lab
Sample type
Blood + Saliva
Turnaround
3–4 weeks
Markers
750,000+
Platform
Illumina 750K

What you'll discover

Copy Number Variations (CNVs)

Microdeletions and microduplications as small as 2.3 kB — invisible to traditional karyotyping

750K+ markers

Developmental delay causes

Chromosomal basis of intellectual disabilities, autism spectrum disorders, and developmental delays

First-line diagnosis

Congenital anomalies

Genetic causes of multiple congenital anomalies and dysmorphic features in infants and children

Syndrome diagnosis

Uniparental disomy (UPD)

Detection of copy-neutral loss of heterozygosity — when a child inherits both chromosomes from one parent

Cn-LOH screening

Sex chromosome analysis

Detailed sex chromosome and pseudoautosomal region analysis including PAR1 and PAR2 regions

Gender genetics

Mosaicism detection

Low-level mosaicism detection as low as 20% — critical for diagnosing tissue-specific conditions

20% sensitivity

Why CMA outperforms traditional karyotyping
100x Higher Resolution
Detects changes as small as 2.3 kB vs karyotyping's 5–10 Mb minimum — catching abnormalities that would otherwise be missed
750,000+ Markers
Covers ~9,000 genes with 750K markers and 447 disease-associated gene hotspots — far more comprehensive than standard cytogenetics
UPD Detection
Identifies uniparental disomy and copy-neutral loss of heterozygosity — conditions completely invisible to karyotyping
Mosaicism Sensitivity
Detects low-level mosaicism down to 20% — critical for diagnosing conditions that affect only specific cell populations

How it works
1

Order online

Place your order. Your home collection kit ships within 24 hours — blood collection tube included with instructions.

2

Blood + Saliva sample collection

Collect blood sample (EDTA tube, 2–3ml) and saliva swab at home. Return with prepaid courier label provided.

3

Microarray analysis

Your sample undergoes Illumina 750K BeadChip microarray genotyping, scanning 750,000+ markers across all chromosomes in our NABL & CAP accredited lab.

4

Bioinformatics interpretation

Advanced bioinformatics tools compare your data against 495,268+ genomic structural variants from the Database of Genomic Variants for accurate classification.

5

Clinical report + Genomic Expert consultation

Comprehensive CMA report in 3–4 weeks. Post-result consultation with our Genomic Expert to explain findings and coordinate with your child's specialist.


Sample report preview

Your CMA Report

A snapshot of your Chromosomal MicroArray analysis report

CNVs Detected
0
Pathogenic variants
Markers Analyzed
750K+
Across all chromosomes
UPD Regions
None
Cn-LOH detected
Resolution
2.3 kB
Minimum detection size
Full chromosome CNV map
Pathogenic / VUS / Benign classification
UPD & Cn-LOH analysis
Sex chromosome report
Mosaicism screening
Clinician-ready PDF report

Frequently asked questions
Who should consider CMA testing?
CMA is recommended for children with unexplained developmental delays or intellectual disabilities, autism spectrum disorders, multiple congenital anomalies, facial dysmorphisms, unexplained seizures, or ambiguous genitalia. It is also valuable for families with a history of chromosomal abnormalities, cases of recurrent pregnancy loss, and situations where traditional karyotyping has been uninformative.
Why is CMA better than traditional karyotyping?
Traditional karyotyping can only detect chromosomal changes larger than 5–10 million base pairs. CMA detects changes as small as 2,300 base pairs (2.3 kB) — over 2,000 times more sensitive. CMA also detects uniparental disomy (UPD) and copy-neutral loss of heterozygosity, which karyotyping completely misses. This is why CMA has replaced karyotyping as the first-line test for developmental delay and congenital anomalies.
How is the sample collected?
The primary sample is an EDTA blood draw (2–3ml) plus a saliva swab. For infants, a small blood sample is collected via finger prick. In some cases, extracted DNA (1–2 micrograms) can be used. The kit includes all collection materials with step-by-step instructions and a prepaid return courier label.
What happens if the CMA result shows an abnormality?
Our Genomic Expert will review the findings with you in a post-result consultation. Variants are classified as Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), or Benign. If a clinically significant finding is identified, we will help coordinate referral to the appropriate specialist — such as a clinical geneticist, neurologist, or developmental pediatrician — for further evaluation and management planning.
Is my data private and secure?
Yes. All data is protected under ISO 27001, HIPAA, and GDPR standards. Your genetic information is never shared with insurance companies, employers, or any third party without your explicit consent.
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🔬 Clinical Genomics · Diagnostics
₹15,000
  • Illumina 750K BeadChip microarray
  • 750,000+ markers across all chromosomes
  • 2.3 kB resolution — far beyond karyotyping
  • UPD & Cn-LOH detection included
  • NABL & CAP accredited lab
  • Genomic Expert post-result consultation
Quantity
1
Secure checkout · SSL encrypted
Free pan-India shipping
Results in 3–4 weeks
Data never shared with insurers
NABL & CAP accredited
Genomic Expert Consultation — Included
After results, a Genomic Expert reviews findings with you and coordinates specialist referral if needed.
Appointment link sent via email after order confirmation.
NABL & CAP

Accredited lab

750K+ Markers

Illumina BeadChip

2.3 kB Resolution

100x karyotyping

ISO 27001

Data security

100% Private

GDPR compliant

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