Thermo Fisher Scientific CytoScan Dx Assay Kit

Thermo Fisher Scientific CytoScan Dx Assay Kit

The Applied Biosystems CytoScan Dx Assay is a US FDA-cleared and EU IVDR-compliant advanced microarray diagnostic test for identifying the underlying genetic causes of developmental delay, intellectual disability, congenital anomalies, or dysmorphic features in children.

Key Benefits

• Advanced diagnostic test for reliable and reproducible results
  FDA-cleared and IVDR-compliant postnatal blood test aiding diagnosis of developmental delay, intellectual disabilities, congenital anomalies, or dysmorphic features.
• Analyze the entire genome with one test
  Detects numerous chromosomal variations across types, sizes, and genomic locations with higher resolution than karyotyping and greater coverage than conventional FISH.
• Designed for today and the future
  Incorporates 2.69 million functional markers across the genome, ensuring representation of most genes, including those not yet clinically characterized.
• Dual probe content with high-density SNPs
  Contains both CN and SNP probes to elucidate allelic imbalances and identify LOH/AOH related to uniparental disomy or consanguinity, confirming copy number changes.
• Exceptional performance
  Offers high specificity, sensitivity, accuracy, and resolution across the genome.
• Streamlined data analysis
  The Chromosome Analysis Suite Dx (ChAS Dx) Software provides an intuitive interface, ISCN array nomenclature, and database links for efficient analysis workflows.
• Improved diagnostic yield
  With higher resolution and whole-genome coverage, the CytoScan Dx Assay improves diagnostic yield by approximately 12.5% compared to G-banded karyotyping.

Clinical Recommendations

Chromosomal microarray analysis (CMA) is recommended as a first-line test for diagnostic evaluation of intellectual disability (ID) by major medical societies, including:

• American Academy of Neurology (AAN)
• Child Neurology Society (CNS)
• American College of Medical Genetics (ACMG)
• European Society of Human Genetics (ESHG)

CMA is preferred over traditional karyotyping and fluorescence in situ hybridization (FISH) due to:

• Greater sensitivity
• Higher resolution
• Genome-wide capability
• Improved diagnostic yield

Customer Training and Support

Customer training is required to implement the CytoScan Dx Assay. Training options vary based on experience level.
For details, please contact: techsupport@thermofisher.com

Intended Use

The CytoScan Dx Assay is a qualitative assay for postnatal detection of chromosomal copy number variants (CNV) in genomic DNA (gDNA) derived from peripheral whole blood.
It is indicated for detecting CNVs associated with developmental delay, intellectual disability, congenital anomalies, and dysmorphic features.

Results should be interpreted alongside other clinical and diagnostic findings by healthcare professionals certified in clinical cytogenetics or molecular genetics.
The complete CytoScan Dx Suite includes:

• CytoScan Dx Array
• Reagent Kit
• Applied Biosystems GeneChip System 3000 Dx platform for array processing
• ChAS Dx Software

Specifications

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