The largest specific etiology of identification of developmental delay and intellectual disability is genetic(1). According to the American Academy of Neurology (AAN), the Child Neurology Society (CNS), the American College of Medical Genetics (ACMG), and the International Collaboration for Clinical Genomics (ISCA/ICCG), a chromosomal microarray analysis (CMA) is considered the first-line genetic test to aid in the diagnostic evaluation of ID when patient history and physical examination do not provide an obvious syndrome diagnosis(2-4). The CytoScan™ Dx Assay is the first IVD whole-genome diagnostic test to aid in identifying the underlying genetic cause of developmental delay, intellectual disability, congenital anomalies, or dysmorphic features in children.
CytoScan Dx Assay can accurately detect numerous chromosomal variations of different types, sizes, and genomic locations. In addition to identifying copy number changes, CytoScan Dx Assay is capable of detecting allelic imbalances and copy number neutral abnormalities such as AOH/LOH that can be associated with uniparental disomy (UPD) or consanguinity, both of which may pose increased risk for autosomal recessive conditions.
Customer training is required to implement CytoScan Dx Assay for both new and existing customers. Different options are available based upon your experience level; please contact an Thermo Fisher Scientific Representative for details.
The GeneChip™ System (GCS) 3000Dx is the most robust system for clinical research and the only IVD and CE marked microarray system for RNA- and DNA-based clinical tests. This GeneChip instrumentation system combined with innovative assays provides a complete platform for hybridizing, washing, staining, and scanning of microarrays. The CytoScan Dx Assay must be run on GeneChip System 3000Dx.
CytoScan Dx Assay is a qualitative assay intended for the postnatal detection of chromosomal copy number variants (CNV) in genomic DNA (gDNA) obtained from peripheral whole blood in patients referred for chromosomal testing based on clinical presentation. CytoScan Dx Assay is indicated for the detection of CNVs associated with developmental delay and/or intellectual disability (DD/ID), congenital anomalies, and/or dysmorphic features. Assay results are intended to be used in conjunction with other clinical and diagnostic findings, consistent with professional standards of practice including confirmation by alternative methods, parental evaluation, clinical genetic evaluation, and counseling as appropriate. Interpretation of assay results is intended to be performed only by healthcare professionals board certified in clinical cytogenetics or molecular genetics. The assay is intended to be used on the GeneChip System 3000Dx and analyzed by Chromosome Analysis Suite Dx Software (ChAS Dx Software). This device is not intended to be used for standalone diagnostic purposes, pre-implantation or prenatal testing or screening, population screening, or for the detection of, or screening for, acquired or somatic genetic aberrations.
WARNING: This device is not intended to be used for standalone diagnostic purposes, per-implantation or prenatal testing or screening, population screening, or for the detection of, or screening for, acquired or somatic genetic aberrations. Interpretation of assay results is intended to be performed only by healthcare professionals, board certified in clinical cytogenetics or molecular genetics.
For In Vitro Diagnostic Use.