GenomeScreen was developed by Geneton as an affordable detection test for copy number variants (CNV). It is usually prescribed when there is some suspicion for pathogenic CNV either from screening or abnormal phenotype, but it can also be taken upon request. GenomeScreen is a great replacement for more conventional cytogenetic analysis through microarray-based methods (aCGH), since it covers a wider portion of genome (aCGH usually focuses on genes and leaves intergenomic areas only sparsely covered). Moreover, GenomeScreen is approximately 2x-3x times cheaper while having the same or better accuracy.
Upon completion, doctor or patient receives a detailed report of all found CNVs and information about their pathogenicity according state-of-the-art databases.
Technical details:
material: blood
turn-around time: 5 days
genome coverage: 87%
minimal length of detected CNV: 200k bases
price: 350E