Ambry Genetics Expands Services to Diagnose Life-Threatening Lung Diseases


Ambry Genetics
15 Argonaut
Aliso Viejo, CA 92656

Aliso Viejo, CA, December 7, 2006 - Ambry Genetics, a recognized leader in comprehensive genetic testing, has expanded its pulmonary genetic test menu to diagnose defects in ABCA3. The gene ABCA3 is a critical component in prevention of severe neonatal respiratory distress and pediatric Interstitial Lung Diseases.

The ABCA3 gene has a key role in the pulmonary surfactant system, which allows efficient oxygen exchange and prevents collapse of the lung tissue. Genetic defects in the various steps of production, processing, and transport of surfactant components can cause a variety of breathing disorders. These disorders range from life-threatening respiratory distress in the newborn period to chronic respiratory insufficiency presenting in infancy or childhood. Some of these conditions are treatable only by lung transplant.

Ambry Genetics launched tests for related genes, Surfactant Proteins B & C, early in 2006. Research has since revealed that mutations of the ABCA3 gene also cause these conditions, either by themselves or by exacerbating effects of mutations in the surfactant protein genes. Charles L. M. Dunlop, president and CEO, explains: "The ABCA3 launch is representative of Ambry Genetics in many ways. This is a significant gene we are able to analyze quickly. The test was developed in response to clients’ and patients’ needs; it fills in the missing piece to the Surfactant Proteins B & C product line. Full gene sequencing of ABCA3 is one more hurdle crossed towards a test menu encompassing genetic causes of Interstitial Lung Diseases. Ambry’s goal is to advance the use of pulmonary genetics in the clinic, and this can be achieved by offering products such as ABCA3 and supporting researchers in their efforts."

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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