Ambry Genetics, Aliso Viejo, Calif, a CAP-accredited and CLIA-certified commercial clinical laboratory, has reached a new milestone in next-gen sequencing (NGS).
The company invested in NGS in 2007, when it was first commercially available, and soon after launched their genomic services division running large academic, biotech, and government projects.
Ambry offered an NGS-based diagnostic test in April 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, the company says.
These aspects are key where test results can have a direct impact on medical management or family planning.
The company introduced the Clinical Diagnostic Exome™ in 2011, making it the first CLIA-certified lab to offer whole-exome sequencing clinically, the company says.
Next came Marfan syndrome and Primary Ciliary Dyskinesia. The company released NGS panels in 2012, with its hereditary cancer syndrome product line and most recently, its hereditary cardiovascular disease panels.
Significant laboratory automation investments, enhancements, and restructuring has allowed the company to focus on reducing TAT. Accordingly, the company has reduced its full CFTR sequencing plus deletion and duplication analysis TAT in half to 5 to 13 days.
[Source: Ambry Genetics]
