Clinical Genomics

Identifying and understanding a genetic diagnosis –- particularly when prior evaluations have not done so –- allows for accurate disease identification and management. It also offers accurate risk assessment and genetic counseling for a family. We offer powerful testing options in our Clinical Genomics category; these cast comprehensive and powerful nets to examine an individual’s entire genome, with the goal of efficiently finding the underlying cause to explain a constellation of medical concerns. 

Ambry was the first commercial laboratory to offer clinical diagnostic exome sequencing in 2011. ExomeNext can be ordered as a routine or Rapid option, if a quicker answer is needed. It is the only clinical exome sequencing test available to offer novel gene analysis, which leads to one of the highest detection rates available in the industry. Our chromosomal microarrays are available with two different platforms (SNP+CGH and 180k), giving flexibility to meet clinical need.

We also have a comprehensive testing menu for numerous inherited disorders, suitable for many medical subspecialties. Our responsible adoption of new technologies, helpful customer service, and clear results interpretation make us an ideal partner to help you find the answer for your patients and their families. Below, our ExomeNext and chromosomal microarrays test options are listed, with links for more details.

Test Name Description TAT
Chromosomal Microarray SNP+CGH and 180k oligo options 10-21 (days)
ExomeNext ExomeNext and ExomeNext-Rapid 2-12 (weeks)

 

You can view a complete listing of Ambry’s testing options organized by disease here, and by gene here