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November 12, 2004
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.

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