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.
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
- 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
- Offers comprehensive gene-level coverage for known constitutional genes on a single array
- Ideas for investigation of neurological disorder
- 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
|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:
- Extracted DNA samples