The AffymetrixCytoScan 750k Array uses a high-density combined CGH and SNP platform, 550,000 non-polymorphic probes and 200,000 SNPs, which evaluates approximately 2,696,550 bookmarks.
Advantages:
- Cytoscan750k is superior to other array platforms on the market, as it is a mixed platform that detects CGH (loss and gain of genetic material), SNPs (uniparental disomy) and LOH (loss of heterozygosity) in a single test.
- Higher resolution (with a total number of markers 750,000 and 2,700,000) in the detection of important gains and losses of genetic material in individuals with intellectual disabilities, dysmorphic traits, multiple congenital anomalies and ASD, allowing the identification of new syndromes, a better knowledge of them and better patient health care.
- Detection of triploidies, in cases of prenatal diagnosis they are excluded and it would not be necessary to wait for the karyotype.
- High density of markers in regions of clinical interest (ISCA, OMIM and RefSeq genes).
- The highest coverage of genes of interest: 100% of the ISCA (International Symposium of CytogenomicArrays) genes, 98% of the OMIM (international catalog of Mendelian diseases) genes and 96% of the RefSeq (Reference Sequence) genes.
- The high density of SNPs allows the detection of -Loss of heterozygosity (LOH): multiple losses of heterozygosity in the whole genome can indicate inbreeding. Loss of heterozygosity raises suspicion for autosomal recessive disease, as well as uniparental disomy (UDP) when it occurs
- Confirmation in duplicate of the copy number variations found (CNVs) by means of the combined analysis of both types of markers, so that an additional complementary test (eg: MLPA) is not required for the confirmation of a certain alteration.
- The Affymetrix platform is the only one validated and approved by the FDA (United States Food and Drug Administration) for use in the diagnosis of psychomotor retardation, autism, and polymalformation syndromes.
This test includes two genetic counseling consultations, one before carrying out the study and another after carrying out the study. Consultations last 45 minutes.
