Research testing for ADRB2 now available at Ambry Genetics
IRVINE, CA (November 12, 2004) – AMBRY GENETICS, a leading genetic testing company, announced it has added a new research test to its product line. Ambry Genetics is offering ADRB2 sequencing, including the exon, 5' UTR and 5' leader cistron, to aid in research studies. ADRB2 emerges to be a significant disease modifier in asthma and bronchial disorders.
Asthma is a chronic inflammatory disorder affecting the airways. The etiology of the disease includes environmental and genetic factors. The beta(2) adrenergic receptor (ADRB2), a member of the G-protein coupled receptor family, is the most common adrenergic receptor in the lung and is important for cAMP regulation in the airway. It is a target for the treatment of bronchospasm.
Associations between ADRB2 polymorphism status and phenotypes of asthma activity, asthma drug response, nocturnal asthma and bronchial hyperresponsiveness have been reported. Research studies have shown that the polymorphism status can alter receptor function and expression, and ADRB2 shows potential to be an important disease modifier. Yet, further extensive population studies are needed to clearly discern genotype-phenotype correlations.
AMBRY GENETICS
Ambry Genetics is a worldwide leader in specialized genetic testing. The proprietary Ambry Test™ combines scanning and sequencing technologies to analyze a gene’s entire coding region plus surrounding critical introns. Capable of identifying more than 99% of the known disease-causing mutations of the CFTR gene, the company’s reputable Cystic Fibrosis test has an unrivaled detection rate of over 96% across all ethnic groups. The Company also created the world’s first and only comprehensive genetic test for three principal genes (PRSS1, SPINK1 and CFTR) associated with Chronic and Hereditary Pancreatitis. Ambry Genetics most recent development detects mutations of the most significant genes (MLH1, MSH2) causing hereditary colon cancer, significantly optimizing patient management and risk assessment. Headquartered in Irvine, California, the Company’s advancements are providing precise, cost effective methods to aid in disease definition and early, more accurate diagnosis. Several academic and pharmaceutical research projects are underway, including expanded population statistical analysis and the development of assays for other genes. Website: www.ambrygen.com.










