Chromosomal Microarray

Detect genetic imbalances missed by traditional karyotyping

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What Is a Chromosomal Microarray?

Chromosomal Microarray Analysis (CMA) is a high-resolution technique that detects copy number variants (CNVs) across all chromosomes, identifying aneuploidy, microdeletions, microduplications, and regions of homozygosity with greater accuracy than traditional karyotyping.

What genetic conditions can CMA diagnose?

  • Microdeletion syndromes: (e.g., DiGeorge, Williams, Prader-Willi/Angelman)
  • Microduplication syndromes: (e.g., 16p11.2, 22q11.2, 17q12 duplications)
  • Telomeric imbalances
  • Aneuploidies: (e.g., Trisomy 21, Turner syndrome)

Who can consider testing ?

  • Children with developmental delay, intellectual disability, or autism spectrum disorder
  • Patients with multiple congenital anomalies
  • Individuals with unexplained dysmorphic features
  • Couples with recurrent pregnancy loss
  • Prenatal cases with abnormal ultrasound findings

Technical specifications

Platform

Illumina Infinium GSA-24 v 3.0

Genes Analyzed

245 high value cytogenetic regions containing ~9000 genes

Resolution

315K/750K

Variant Types

CNVs

Sensitivity & Specificity

99-100%

Sample Type

Blood in EDTA/ AF/CVS/POC

TAT

3 weeks

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Why choose OneDNA

Comprehensive Coverage

Comprehensive testing across both molecular and cytogenetic platforms

Accredited Laboratories

NABL & CAP accredited lab

Support & Care

End-to-end support including genetic counselling and report guidance.

Early & Accurate

High accuracy with advanced technologies and stringent quality controls

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Frequently Asked Questions

It won’t diagnose autism directly, but it can identify genetic changes that are sometimes associated with autism or related conditions.

A normal result means no major chromosomal changes were found but it doesn’t rule out all genetic conditions.

Not always, but if something is found, testing parents can help understand whether it was inherited or happened for the first time.

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