Chromosomal Microarray (CMA)

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Precision in diagnosis, including the identification of disease subtypes, directly influences treatment and patient outcomes. Understanding of pathology at a molecular level is critical for identification of many diseases and their subtypes.

Presenting ACTIA from MedGenome, delivering ACTIONABLE insights to enable happier outcomes. Actia provides an end-to-end integrated solution to clinical genomics in India and is highly focussed on the Indian population.

ACTIA Diagram

What is Chromosomal Microarray (CMA)?

  • It is a microchip-based testing platform that allows automated analysis of many pieces of DNA at once
  • CMA chips use probes that hybridize with specific chromosomal regions to detect copy number variations (CNV)
  • Its analysis offers the capacity to examine the whole human genome in a single chip with high resolution
  • It offers a combination of CNV and SNPs

Types of CMA

Xon array

  • Provides very high-resolution DNA copy number analysis to detect gains and losses at xon level. Also detects loss of heterozygosity (LOH), regions identical-by-descent, and uniparental isodisomy (UPD) on a single array
  • Extensive coverage for 453,076 xons is 17974 genes with increased sensitivity and specificity in 7000 clinically relevant genes

750K array

  • Offers comprehensive gene-level coverage for known constitutional genes on a single array
  • Ideas for investigation of neurological disorder

Optima array

  • Ideal for genetic analysis of product of conception (POC)
  • Aneuploidy analysis

Why Chromosomal Microarray (CMA)?

  • First-tier test* for individuals with:
    • Developmental disabilities
    • Autism spectrum disorders
    • Multiple congenital anomalies
    • Mental Retardation
  • For individuals with seizures and other developmental problems for which a chromosomal basis is suspected
  • Detection of CNV’s at single xon level ensuring diagnosis of single gene diseases too.

Why Actia CMA is Better?

  • Higher Resolution#
  • Nearly double diagnostic yield#
  • Multiplexing/Throughput is possible
  • Detection of Maternal Cell Contamination
  • Detection of Uniparental Disomy

Medgenome Offers:

Type Number of CNV Probes used Number of SNPs Covered Probe Density Deletion Duplication Loss of Heterozygosity Absence of Heterozygosity Long Continuous Stretches of Heterozygosity Recommended for TAT
Xon array 6.55 Million 3,00,000 >500Kb >25Kb >200Kb >100Kb > 3% of total autosomal(>3Mb LCSH) LCSH >8-15 Mb Prenatal Testing; including first line screening for cases of Developmental Delay (DD), Mental Retardation (MR), Multiple Congenital Anomalies (MCA) and Autism Spectrum Disorders (ASD) 14 Working Days
750K 750436 200436 >100Kb >100kb >400kb >5 Mb > 3% of total autosomal (>3Mb LCSH) LCSH >8-15 Mb
Optima 18018 148450 >200Kb > 1 Mb > 2 Mb > 5 Mb Not Reported Not Reported POC Testing

Test Sample Requirements:

  • Blood
  • Extracted DNA samples
  • POC

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