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GenetiSure Dx Postnatal Assay is a qualitative assay intended for the postnatal detection of copy number variations (CNV) and copy-neutral loss of heterozygosity (cnLOH) in genomic DNA obtained from peripheral whole blood in patients referred for chromosomal testing based on clinical presentation. GenetiSure Dx Postnatal Assay is intended for the detection of CNVs and cnLOH associated with developmental delay, intellectual disability, congenital anomalies 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 only by healthcare professionals, board certified in clinical cytogenetics. The assay is intended to be used on the SureScan Dx Microarray Scanner System and analyzed by CytoDx 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.

The GenetiSure Dx Postnatal Assay is a clinical laboratory in vitro diagnostic assay for performing molecular karyotyping based on array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) analysis from blood samples of post-natal patients who are suspected of having a genomic abnormality. This molecular karyotyping is a modified in situ hybridization technique that allows detection and mapping of DNA sequence copy difference(s) between two genomes in a single experiment. In molecular karyotyping analysis, two differentially labeled genomic DNAs (subject/test sample and a reference sample) are co-hybridized to complementary nucleic acid sequences synthesized in situ on a microarrav slide. Locations of copy number variation (CNVs) and copy-neutral loss of heterozygosity (cnLOH) in the DNA segments of the subject sample genome are revealed by variable fluorescence intensity on the microarray. The assay compares the patient sample against a sex-matched reference sample. Genomic DNA (gDNA) is extracted from the patient's whole blood and then is fluorescently labeled in parallel with the reference sample using two different fluorescent dyes. The two labeled samples are hybridized to complementary sequences (probes) that are printed on a CGH+SNP microarray. After hybridization, the microarrays are washed and then scanned. The data from the microarray images are converted to numeric data. The relative abundance of the target sequences is computed based on the relative intensities of the fluorophores in the patient and reference samples hybridized to each of the probe sequences. The numeric data is then processed using software specifically designed to report CNVs by chromosomal location. The reported CNVs are interpreted by a Board Certified Cytogeneticist, Molecular Geneticist, Molecular Pathologist, or similarly qualified clinician who has been trained to identify the clinically relevant CNVs, determine clinical significance, and report out these findings. cnLOH in patient samples is also reported to the clinician.

CytoScan® Dx Assay is a qualitative assay intended for the postnatal detection of copy number variations (CNV) in genomic DNA obtained from peripheral whole blood in patients referred for chromosomal testing based on clinical presentation. CytoScan® Dx Assay is intended for the detection of CNVs associated with developmental delay, intellectual disability, congenital anomalies, 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, preimplantation or prenatal testing or screening, population screening, or for the detection of, or screening for, acquired or somatic genetic aberrations.

The CytoScan Dx consists of five reagent modules, a microarray kit, and analysis software. The five reagent modules are: - 1. MOD R L A, CytoScan® Dx Pre-PCR contains buffers, nucleotides, enzyme, and primers and adaptors for amplification; - 2. MOD T E W, CytoScan® Dx Pre-PCR contains buffer and nuclease free water for amplification; - 3. MOD F L H, CytoScan® Dx Post-PCR contains buffers, nucleotides, and enzyme for fragmentation, labeling and hybridization; - MOD S AH W PB, CytoScan® Dx Post-PCR contains buffers, nuclease free water, and purification beads for stain and array hold; - 5. MOD E PW CytoScan® Dx Post-PCR contains buffer for elution and purification wash. The CytoScan® Dx Post-PCR CytoScan® Dx Array kit, 6-pack is designed for 6 runs. The microarray contains approximately 2,696,550 functional markers, each of which is approximately 25 bases long. ChAS Dx Analysis Software and Browser v1.0.0 analyzes CEL file microarray data.