Genetic Sequencing

Today there is a different scenario, in which genomic technologies can be very useful to detect genetic variations in patients with a high accuracy and an important reduction of costs, thanks to the first-generation sequencing approach. In particular, next-generation sequencing will increasingly be used for clinically heterogeneous inherited disorders, resulting in an increase in number of reported disease-causing genes

• >99% of mappable regions of the genome are sequenced at >30X coverage
• Pathogenic SNV detection across the entire genome
• Mitochondrial sequencing, depletion, and deletion analysis with heteroplasmy assessment
• Repeat expansion detection with confirmation by alternative technology
• Turnaround time of 2-6 weeks, STAT option of <2 weeks available
• Single nucleotide resolution copy number analysis with junction identification
• Uni-parental disomy detection