CLIA Exome

  • Cancer exome sequencing for tumor marker discovery
  • Pharmacogenomics exome sequencing for drug response biomarker discovery
  • Diagnostic exome sequencing for Mendelian disease gene discovery
Exome Sequencing for Biomarker Discovery Specifications and Deliverables

Ambry offers the most current, state-of-the-art, in-solution whole-exome capture methods. The standard exome package offers a minimum average coverage of 50x per exome. However, greater depth of coverage can be accommodated. For clients who desire to do their own bioinformatics analysis, Ambry delivers the raw sequence fastq data files on a hard drive via overnight delivery. Ambry offers a fully customizable and robust bioinformatics pipeline for exome variant filtering, annotation and interpretation.

Ambry Genetics Clinical Diagnostics Advantages

Since the company’s inception in 1999, Ambry has become a leader in providing genetic services focused on clinical molecular diagnostics and genomic services. Ambry’s clinical tests utilize the latest, most accurate and cost-effective technologies including capillary sequencing, MLPA, pyrosequencing and microarray analysis, as well as NextGen sequencing for disease-specific multi-gene panels and the diagnostic exome. Ambry has established a solid reputation for unparalleled client services including rapid insurance pre-verification and Ambry Patient Care Plan to assist indigent patients by minimizing out-of-pocket expenses. A strong client support team of over 20 knowledgeable genetic counselors and medical directors assists with test selection and result interpretation. Ambry’s reports are among the best in the industry, providing thorough variant interpretation in an easy-to-read format.

Ambry Genetics Outstanding NextGen Sequencing Expertise

Ambry has been at the forefront of applying NextGen sequencing to meet the needs of clients since the inception of the technology. As one of the first laboratories to acquire a NextGen sequencing platform in 2007, Ambry quickly became an official certified service provider (CSP). Since that time, Ambry has offered a full suite of services for academic, clinical and pharmaceutical industry research through the Genomic Services division. Applications include de novo whole genome sequencing, transcriptome sequencing (mRNA-seq), ChIP sequencing, small RNA (miRNA) sequencing and custom sequence capture in addition to the highly popular whole exome sequencing. In 2010, Ambry became the first clinical lab to offer an extensive NextGen panel for the diagnosis of X-linked mental retardation. One of Ambry’s main objectives is to remain at the forefront of applying relevant new technologies to the clinical molecular diagnostics market.