The massively parallel sequencing technology known as next-generation sequencing (NGS) has revolutionized the biological sciences. With its ultra-high throughput, scalability, and speed, NGS enables a wide variety of applications and the study of tumors at a level impossible before. Next-generation sequencing is based on the ability to sequence, in parallel, millions of DNA fragments, and the introduction of NGS technology has resulted in a dramatic increase in speed and content of sequencing at a fraction of the cost. Briefly, first a DNA library is prepared from the patient’s sample by fragmentation, purification, and amplification of the DNA sample. Individual fragments are then physically isolated by attachment to solid surfaces or small beads. The sequence of each of these fragments is resolved simultaneously by techniques such as sequencing by synthesis. The resulting sequence data are computationally aligned against a ‘normal reference’ genome. This enables the detection of many sequence alterations in a single reaction. ​

Next-generation sequencing–based screening has been shown to have high clinical sensitivity in the assayed genes. Mutation detection has been shown to have about 95% sensitivity and 100% specificity for a variety of alterations such as SNPs, insertions and deletions, splicing mutations, and gross deletions. Proponents of NGS-based carrier screening claim that it shows high accuracy, precision, reproducibility, and robustness for clinical use compared with the targeted mutation analysis. Because sequencing is performed throughout the genes of interest, unrecognized or rare pathogenic variants, not included in any targeted arrays, may be detected. ​

We provide NGS services to all our panels even if you prefer to prepare your own libraries.​

For successful data analysis, you will need 2x150 PE reads on an Illumina platform. The read number depends on the given panel, but in the case of SOLID panels, the recommended read numbers are between 9.6M and 41M. In the case of PLASMA panels, the minimum read number is 5M reads/sample.​