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November 10, 2004
Ambry Genetics Expands CFTR
Testing
Now Accepting Bloodspots for Full Gene Sequence
Analysis
IRVINE, CA (November 10, 2004)
– AMBRY GENETICS, a leading genetic testing company, announced
it is now accepting bloodspots for CFTR-analysis. Ambry
Genetics is the only laboratory in the world that offers full
gene sequence analysis for Cystic Fibrosis utilizing
bloodspots.
“It can be difficult to obtain
sufficient blood from newborns,” said Anja Kammesheidt, PhD,
Chief Scientific Officer of Ambry Genetics. “Now by using the
blood obtained during routine newborn care no IV blood draw is
necessary and it is easier to submit newborn blood to be
tested,” continued Kammesheidt.
Utilizing bloodspots (collected
on S&S 903 specimen collection paper) for CF testing allows
for ease of specimen collection for all patients, not just
newborns. International samples can be shipped readily and
offices that do not have blood-drawing capabilities can obtain
adequate blood to send to Ambry Genetics for analysis. Ambry
Genetics has made it more expedient for medical personnel to
obtain the most comprehensive genetic test for Cystic
Fibrosis.
Cystic Fibrosis affects
approximatly one in every 3,000 individuals in the United
States, making it one of the most common inherited disorders.
More than 10 million Americans are asymptomatic carriers of
the defective cystic transmembrane regulatory (CFTR) gene.
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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