Next-generation sequencing (NGS) technologies provide direct clinical benefit to patient care, while at the same time expanding important genomics research. California-based Ambry Genetics has announced that it has officially reached a new milestone in NGS: 10,000 diagnostic and 100,000 genomics samples.
Ambry invested in NGS in 2007 when it was first commercially available, and soon after the company launched its genomic services division, running large academic, biotech, and government projects. Ambry offered an NGS-based diagnostic test in 2010, with the introduction of an 81-gene panel for X-Linked intellectual disability. NGS is ideal for analyzing large sets of genes involved in molecularly heterogeneous disorders, reducing both cost and turnaround time (TAT) over traditional Sanger sequencing. This is crucial when test results can have a direct effect on medical management or family planning.
In 2011, Ambry launched the Clinical Diagnostic ExomeTM, thereby offering whole-exome sequencing clinically. This was followed by Marfan syndrome and the Primary Ciliary Dyskinesia NGS panels. Last year, Ambry released its widely adopted hereditary cancer syndrome product line, and most recently its hereditary cardiovascular disease panels.
Ambry continues to develop and enhance its comprehensive testing menu. Significant laboratory automation investments, enhancements, and restructuring have allowed the company to focus on reducing test TATs. Accordingly, Ambry has reduced its full CFTR sequencing plus deletion and duplication analysis TAT in half, from five-to-thirteen days. Read more about clinical diagnostics solutions offered by Ambry.
