Ambry Genetics Expands Services to Diagnose Life-Threatening Lung Diseases


Ambry Genetics
15 Argonaut
Aliso Viejo, CA 92656

Ambry Genetics, a leader in genetic testing, has introduced highly sensitive tests for detection of mutations causing two devastating diseases of childhood. Tay-Sachs Disease and Canavan Diseases are both severe, progressive diseases that disable the nervous system and cause early death. Due to an especially high carrier rate in certain populations, medical professionals have for several years recommended offering carrier screening for Canavan Disease to people of Ashkenazi Jewish descent and for Tay-Sachs Disease to people of Ashkenazi Jewish, Cajun, or French-Canadian descent. Testing for a few mutations picks up the majority of carriers in the higher-risks groups, but is only about 50% effective in other ethnic groups. Biochemical testing is available for Tay-Sachs Disease but it is not informative in all cases, and no such testing is available for Canavan Disease carrier screening.

The Ambry Test™: Tay-Sachs Plus and the Ambry Test: Canavan AMPLIFIED™ assays close this gap by analyzing the entire coding regions and large rearrangements of the responsible genes. Specifically, the 7.6 kb French-Canadian Tay-Sachs deletion is detected, and the entire Canavan gene is analyzed for gross deletions or duplications. Both tests have a mutation detection rate of 99%, which is the highest possible in molecular testing. Prior to Ambry’s test launch, such sensitive DNA tests for these diseases were not available in North America.

Ambry Genetics President & CEO, Charles L. M. Dunlop, explains: "The medical community has made great progress in raising awareness of these diseases. Unfortunately, the common tests can’t always do enough to inform and reassure a couple when screening does find a mutation in one partner. That’s where we can help. It makes sense to look at the entire Canavan or Tay-Sachs gene, not just a few mutations, when someone really needs to know."

About Ambry Genetics ®

Ambry Genetics is a leader in clinical diagnostic and software solutions, combining both to offer the most comprehensive genetic testing menu in the industry. Ambry is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. As part of the Konica Minolta family, Ambry is responsibly applying new technologies to the clinical molecular diagnostics market to bring about precision medicine. For more information about Ambry Genetics, visit

Press Contact:
Dina Scaglione
Director, Marketing
949 457 4355

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