Clincal Diagnostic Testing
With over 20,000 CFTR full gene analyses completed, Ambry Genetics has the most extensive single-laboratory experience with cystic fibrosis diagnostic testing. Our pulmonary clinical test menu is the most complete available, with analysis of 11 genes causing pulmonary disease. Four staff genetic counselors are available to assist with test selection and result interpretation.

Tests are available for the following conditions:

Alpha-1-Antitrypsin Deficiency
Congenital & Late-Onset Central Hypoventilation Syndrome
Cystic Fibrosis
Interstitial Lung Disease
Neonatal Respiratory Failure
Primary Ciliary Dyskinesia
Pulmonary Arterial Hypertension
Pulmonary Fibrosis
Surfactant Dysfunction

Research and Clinical Study Support
Our Pharmacogenomic Services and Research Support Services provide clinical and basic science researchers in academia and industry with access to the full range of new and traditional genetic technologies, including genome sequencing, SNP analysis, drug metabolism panels, and more.  With Ambry Genetics, you will find flexibility, decisiveness, and a rapid, customized response not available elsewhere. 

Custom assay design is our specialty.  Sequencing tests already developed for research use include the asthma-related gene ADRB2, Surfactant Protein A (SFTPA1 and SFTPA2 genes), and Surfactant Protein D (SFTPD).

Resources for Providers and Patients
More than a diagnostic lab, Ambry Genetics can help your practice with patient insurance preverification, a quarterly e-newsletter (sign up), direct access to our MD/PhD scientists and genetic counselors, and a growing For Patients section in our website.  We are pleased to have active relationships with several patient support groups.

Find Out More
Please contact us, view the rest of our website, or order free specimen submission kits to put Ambry Genetics to work for your patients.