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2009

2008

Signature Genomic Laboratories, LLC, receives ISO 9001:2008 certification

Spokane, Wash. - Signature Genomic Laboratories, LLC, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained mental retardation and/or birth defects, announced it has achieved ISO 9001:2008 certification.

With its certification, Signature Genomics joins only a few clinical laboratories in the United States with quality management systems certified to ISO 9001:2008 requirements. The standard applies to Signature Genomics’ clinical laboratory services and the design and production of Genoglyphix® research-use-only products, including software, microarrays and labeled DNA probes. Signature Genomics’ certification was conferred by Det Norske Veritas, a third-party accredited registrar.

“At Signature Genomics we pride ourselves in maintaining the highest standards for quality controls and systems management” said Catherine D. Kashork, Vice President of Laboratory Operations at Signature. “That we have met the rigorous standards set forth in the ISO 9001:2008 quality management system demonstrates our commitment to high-quality service for patients and healthcare providers.”

“Effective quality management is critical in today’s business environment. We are delighted to achieve ISO 9001:2008 certification, confirming our commitment to consistently provide the best possible products and services to our customers,” said Richard Lloyd, Quality Manager at Signature Genomics. “With this certification, our customers can be confident that Signature Genomics has an internationally recognized quality management system that is focused on meeting or exceeding their needs in a timely manner and continually improving all facets of our business."

During the ISO 9001:2008 certification process, a third-party registrar examines the laboratory’s records and quality management systems. The registrar then performs a certification audit, which consists of informal interviews of key management personnel, examinations, and observations of the system in operation. During this process, the registrar assesses the management system’s degree of compliance with ISO 9001:2008 requirements of the elected standard and performance in identified focus areas. This stringent inspection program is designed to specifically ensure the highest standard of internal quality-control processes to satisfy client obligations. To ensure continual improvement and customer satisfaction, the certification must be renewed every three years.

About ISO
ISO (International Organization for Standardization) is the source of the ISO 9000 and ISO 14000 families of quality and environmental management standards and some 15 000 International Standards for business, government and society. ISO is a network of national standards institutes from 146 countries working in partnership with international organizations, governments, industry, business and consumer representatives.

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Signature Genomic Laboratories CEO Lisa G. Shaffer, Ph.D., Named Ernst & Young LLP Entrepreneur Of The Year® Award 2009 National Finalist in Health Sciences

Signature Genomic Laboratories, LLC, announced that President and CEO Lisa G. Shaffer, Ph.D., was named a national finalist for the Ernst & Young Entrepreneur Of The Year® 2009 Award in Health Sciences. Ernst & Young’s program recognizes outstanding entrepreneurs who are building and leading dynamic, high-growth businesses on a regional, national and global level.

The national award finalists were announced at an awards gala, hosted by Jay Leno, on November 14 in Palm Springs, California. The gala is the culminating event of the Ernst & Young 2009 Strategic Growth Forum, the nation’s most prestigious gathering of high-growth, market-leading companies. This group of outstanding entrepreneurs was selected by an independent judging panel made up of business, community and academic leaders.

Commented Dr. Shaffer, “I am honored to be recognized for our company’s innovative approach to the genetic diagnosis of mental retardation and birth defects. We have grown our company through technical advances that Signature has made in the field of cytogenetics to provide better diagnoses for our patients.” Dr. Shaffer was one of four finalists in the U.S. in the category of Health Sciences.

Founded by Dr. Shaffer and her colleague Bassem A. Bejjani, M.D. in 2003, Signature Genomics became the first laboratory to provide microarray-based diagnostic testing of individuals with developmental disabilities with its proprietary SignatureChip® microarray. Signature now has over 120 employees and has made over 8,000 diagnoses after testing more than 40,000 patients since its inception. Signature’s microarrays are now offered for both pre- and postnatal identification of DNA alterations associated with genetic disease.

Now in its 23rd year, The Ernst & Young Entrepreneur Of The Year® awards program honors entrepreneurs who have demonstrated excellence and extraordinary success in such areas as innovation, financial performance, and personal commitment to their businesses and communities. The overall national Entrepreneur Of The Year® winner will compete in the world event, held in Monte Carlo.

“The Entrepreneur Of The Year® award recognizes the importance of entrepreneurs,” said Larry Haynes, Americas Director, Entrepreneur Of The Year®, Ernst & Young LLP. “Our economy depends on these entrepreneurs. They build businesses, support their local communities and drive innovation and development in the economy at large.”

For more information about the winners and how to get involved, please visit www.ey.com/us/eoy.

Sponsors

Founded and produced by Ernst & Young LLP, the Entrepreneur Of The Year® Awards are pleased to have SAP America and the Ewing Marion Kauffman Foundation as national sponsors.

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Researchers at Signature Genomics Attribute Diverse Spectrum of Neurological Problems to Chromosome Abnormalities of Genetic Region Associated with Autism

Spokane, Wash., 11/11/2008 - Researchers at Signature Genomic Laboratories, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities, including autism, recently characterized a broad spectrum of developmental and behavior problems in individuals with a DNA imbalance that has been associated with autism.

Although the causes of autism are not well understood, it has long been established that genetic predisposition is a primary determinant of susceptibility to autism. Recent searches for genetic aberrations in large populations of individuals with autism or an autism spectrum disorder (ASD) have identified missing or extra copies of a small portion of DNA on chromosome 16 in a few of these individuals.

In their study, published in the Journal of Neurodevelopmental Disorders, geneticists at Signature Genomics worked from the other direction, examining the clinical features of 45 individuals with loss of the region on chromosome 16 and 32 individuals with an extra copy of the region, out of 9,773 individuals referred to their laboratory for testing. Of the 16 individuals with the deletion old enough to be evaluated for autism, all had below-average intelligence, and a majority had speech or language problems or delays and various behavioral problems. Nine of the 16 individuals had speech and behavior profiles that aroused clinical suspicion of ASD; five had formal evaluations, and three had pervasive developmental delays. The remaining seven individuals had behavior problems that were clearly distinct from ASD, and several were specifically reported to be social without any stereotypic behaviors. A majority of individuals with the duplication had delayed development and/or specific deficits in speech or language, although these features were not as consistent as seen with the deletions of the same region. Based on these findings, the authors suggested the abnormalities on chromosome 16 are associated with a spectrum of developmental and speech delays and behavioral issues that encompasses autism and other neurological problems.

“Whereas most studies that have implicated DNA imbalances at this region on chromosome 16 have examined populations of individuals with clear indications of autism, we took a unique, ‘genotype-first’ approach by first identifying individuals in our vast patient database with the same genetic constitution, or genotype, and then examining them for common clinical features. This allowed us to show that abnormalities of this region are not unique to autism but likely play a role in more general neurodevelopmental problems,” said Dr. Blake C. Ballif, Ph.D., Director of Product Development and Research at Signature and senior author of the study. “These promising results should aid diagnosis and research of individuals with abnormalities of this region on chromosome 16.”

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Signature Genomics Co-Founders Receive Inland Northwest Catalyst Award for Innovators of the Year

Spokane, Wash., 11/06/2008 - Signature Genomics, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained mental retardation and/or birth defects, today announced company co-founders Dr. Lisa G. Shaffer, Ph.D., and Dr. Bassem A. Bejjani, M.D. have received the 2009 Inland Northwest Catalyst Award for Innovators of the Year.

Greater Spokane Inc. and TechNet announced the award at the annual Inland Northwest Catalyst Awards during the LaunchPad INW Oktoberfest.

“I am honored to be recognized for our company’s innovative approach to the genetic diagnosis of developmental and physical disabilities,” said Dr. Shaffer, President and CEO of Signature.

Added Shaffer, who grew up in the Tri-Cities and attended Washington State University in Pullman, “Dr. Bejjani and I decided to bring our families to Spokane to start our company because Spokane has a business-friendly community and the local universities provide a young, college-educated workforce. In addition, Spokane is a wonderful place to raise a family.”

In 2003, Drs. Shaffer and Bejjani left academia and moved to Spokane to co-found Signature Genomics. Signature became the first laboratory to provide microarray-based diagnostic testing of individuals with developmental disabilities with its proprietary SignatureChip® microarray. Signature now has over 120 employees and has made over 8,000 diagnoses after testing more than 40,000 patients since its inception. Signature’s microarrays are now offered for both pre- and postnatal identification of DNA alterations associated with genetic disease.

Dr. Shaffer recently received the Ernst & Young Entrepreneur Of The Year® 2009 Award in the Life Sciences category in the Pacific Northwest, and Signature has been honored the last two years by Inc. magazine as one of the country’s fastest-growing private companies.

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Researchers at Signature Genomics Diagnose Rare Syndrome in Children with Unexplained Mental Retardation and Birth Defects

Spokane, Wash., 11/03/2008 - Researchers at Signature Genomic Laboratories, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities, recently showed that microarray analysis can identify small DNA alterations in individuals with Pitt-Hopkins syndrome, a rare and poorly characterized genetic disorder.

Children with Pitt-Hopkins syndrome usually have severe mental retardation, characteristic unusual facial features, increased risk for seizures, and may have breathing disturbances which can lead to cyanosis. Although the syndrome has only recently been characterized in depth, researchers know it is caused by the presence of only one functioning copy of the gene TCF4 on chromosome 18, which results when the other copy of the gene is mutated or missing. Previous studies have suggested the clinical features associated with Pitt-Hopkins syndrome are independent of the type of genetic anomaly.

In their study, published in the journal Genetics in Medicine, the journal of the American College of Medical Genetics, geneticists at Signature identified seven individuals with a missing copy of a small region on chromosome 18 including TCF4 in their patient. All seven individuals had features consistent with Pitt-Hopkins syndrome, although only three had breathing anomalies, and none had seizures. By comparing their patients with individuals with the syndrome in the scientific literature, the geneticists at Signature determined that, contrary to previous suggestions that the spectrum of clinical features associated with Pitt-Hopkins syndrome was independent of the type of genetic anomaly, individuals with a certain type of gene mutation were more likely to have seizures than individuals with other mutations or deletions.

“Because Pitt-Hopkins syndrome is rare and only recently described in the literature, children with the syndrome may undergo multiple blood draws and expensive evaluations with little chance of diagnosis,” said Dr. Lisa G. Shaffer, Ph.D., President and CEO of Signature and senior author of the study. “Our results show that, because microarray analysis can identify chromosome abnormalities in individuals with nonspecific symptoms, such as developmental delay, without the need for clinical suspicion of a specific disorder, it may allow earlier diagnoses for syndromes such as Pitt Hopkins. This allows for better medical management and appropriate surveillance for the development or presence of specific clinical features, such as seizures and hyperventilation.”

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Signature Genomics Named to Seattle Business magazine’s Top 25 Innovators and Entrepreneurs of 2009

Spokane, Wash., 11/01/2008 - Signature Genomics, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and neurological deficits such as mental retardation and autism, announced it received the 8th spot on Seattle Business magazine’s Top 25 Innovators and Entrepreneurs of 2009 list. Signature was 2nd among biosciences companies on the list.

“We are honored to be recognized for our innovative approach to the genetic testing of individuals with unexplained mental retardation and birth defects, some of whom have been searching for years for a diagnosis” Said Dr. Lisa G. Shaffer, Ph.D., President and CEO of Signature. “We strive to maintain our reputation as a forward-thinking company, but we never lose focus on our primary concern—providing answers for our patients and their families.”

In 2003, Dr. Shaffer and and her colleague Dr. Bassem A. Bejjani, M.D., left academia and moved to Spokane to co-found Signature Genomics, the first laboratory in the world to take advantage of the mapping of the human genome to provide microarray-based diagnostic testing with its proprietary SignatureChip® microarray. Opening its doors with three employees, Signature began offering testing in March of 2004, and by September of that year was making a profit. In 2007, Ampersand Ventures, a private equity firm focusing on investments in the health care and industrial technology sectors, and in 2008 jVen Capital, a life sciences investment company with a focus in the areas of biotechnology, diagnostics, and medical devices, acquired stakes in Signature. The company posted $18.2 million in revenue in 2008, up from $13.5 million in 2007. Signature now has over 120 employees and has made over 8,000 diagnoses from the more than 40,000 patients tested since its inception. Signature’s microarrays are now offered for both pre- and postnatal identification of DNA alterations associated with genetic disease.

Shaffer and Bejjani say Signature Genomic Laboratories is expected to grow by 30 percent by the end of this year as they prepare to launch a new microarray test to be performed on adult oncology patients in 2010.

Dr. Shaffer recently received the Ernst & Young Entrepreneur Of The Year® 2009 Award in the Life Sciences category in the Pacific Northwest, and Signature has been honored the last two years by Inc. magazine as one of the country’s fastest-growing private companies.

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Geneticists at Signature Genomics Associate Gene Deletion with Neurologic Anomalies

Spokane, Wash., 08/31/2009 - Geneticists at Signature Genomic Laboratories, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained mental retardation and/or birth defects, recently associated absence of a gene on chromosome 6 with neurologic anomalies including developmental delay.

In the study, published in the journal Molecular Cytogenetics, Signature identified a missing, or deleted, segment of DNA on one copy of chromosome 6 in a male with small stature, developmental delay, ear malformations and a brain MRI showing a decrease in the number of cells that transmit information within the brain. Within the missing region of DNA lay only two genes. Although one gene may play a role in tumor suppression and is unlikely to be associated with the patient's clinical features, the other gene, EPHA7, is an intriguing candidate; previous studies of the homologous gene in mice have shown it functions during formation and development of the mouse embryo to determine brain size and shape and aid in the development of the central nervous system. Furthermore, similar features, including neurodevelopmental anomalies, growth retardation and ear malformations, in individuals with deletions of larger segments of DNA that overlap the one missing in their patient prompted the geneticists at Signature to suggest EPHA7 is crucial for, among other processes, proper neurological development.

Commented Dr. Blake C. Ballif, Ph.D., Director of Product Development and Research at Signature and senior author of the study, "Although individuals with deletions of this region on chromosome 6 have been identified before, most of these deletions removed or disrupted many genes; consequently, it was impossible to know the clinical consequences of deletion of any one gene. Our results are exciting because they demonstrate that, because microarray analysis can identify very small DNA imbalances, it has the potential to identify the causative genes of genetic diseases, which can can aid prognosis and may lead to the development of targeted treatments."

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Researchers at Signature Genomics Identify Likely Causative Gene for New Genetic Disorder

Spokane, Wash., 08/24/2009 - Researchers at Signature Genomic Laboratories, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained mental retardation and/or birth defects, recently identified what is likely to be the causative gene for features of 2q32q33 microdeletion syndrome.

Individuals with the syndrome, which is caused by the loss of a small portion of DNA near the end of the long arm of chromosome 2, have severe mental retardation, growth retardation, unusual facial features, thin and sparse hair, feeding difficulties and cleft or high palate. Although deletions of varying amounts of DNA have been reported, the smallest region deleted in all patients contains at least seven genes. One of these genes, SATB2, is a DNA-binding protein that regulates how genes are expressed. The presence of only one copy of SATB2, which occurs when one of the two copies normally present in humans has been deleted or mutated, has been suggested to cause the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In their study, the results of which were published online in the journal PloS ONE, researchers at Signature identified three individuals with small deletions of this region, all of which spanned part of SATB2. After enrolling the patients in a study, review of clinical records showed similar clinical features among these individuals, including severe developmental delay, behavioral problems and tooth abnormalities. Interestingly, only one of the individuals had a cleft palate. Because the individuals had a portion of only one gene missing and the presence of many of the features associated with the larger microdeletion syndrome, the study authors suggested deletion of SATB2 was sufficient to cause several of the clinical features associated with 2q32q33 microdeletion syndrome.

"These results are exciting because they demonstrate microarray analysis can help identify the cause of some clinical features associated with genetic disorders. Identifying the causative gene, in some cases, may lead to treatment targets in the future," said Dr. Lisa G. Shaffer, Ph.D., President and CEO of Signature and senior author of the study. "These results are particularly important for syndromes that have only been identified in a small number of individuals, because they allow us to define the clinical spectrum of the syndrome better."

Added Dr. Shaffer, "the identification of such small abnormalities in these patients also demonstrates that, for diagnostic purposes, it is imprudent to assume that DNA gains and losses under a certain size are not clinically relevant to the patient's features. Some laboratories use an arbitrary cutoff for alteration sizes to decide clinical relevance. We have many examples in GCAD, our proprietary database of alterations identified at our laboratory, of small alterations we deemed clinically relevant after comparison to other cases in the database and scientific literature. GCAD was developed after testing more than 40,000 patients and contains over 8,000 diagnoses. We are committed to publishing unique cases to aid other laboratories in the use of microarrays."

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Signature Genomics Named to 2009 Inc. 5000 with Three-Year Sales Growth of 302.9%

Spokane, Wash., 08/20/2009 - Inc. magazine ranked Signature Genomics no. 1012 on its third annual Inc. 5000, an exclusive ranking of the nation's fastest-growing private companies. The company, which performs microarray-based diagnostic genetic testing of chromosome abnormalities in individuals with unexplained mental retardation and/or birth defects, experienced three-year sales growth of 302.9%, more than twice that of the Inc. 5000 industry median and over 12 times the industry benchmark. Signature was also ranked 70th of companies in the healthcare sector.

Commented Lisa G. Shaffer, Ph.D., President and CEO of Signature, "We are honored to be recognized for our well-planned strategic growth, which has continued despite the current economic conditions. I take special pride in the fact that, as we have grown, we have maintained our reputation for a high level of personal service and technical expertise."

The Inc. 5000 is ranked according to percentage revenue growth from 2005 through 2008. To qualify, companies must have been founded and generating revenue by the first week of 2005, and therefore able to show four full calendar years of sales. Additionally, they have to be U.S.-based, privately held, for profit, and independent -- not subsidiaries or divisions of other companies -- as of December 31, 2008. Revenue in 2005 must have been at least $200,000, and revenue in 2008 must have been at least $2 million. The top 10 percent of companies on the list comprise the Inc. 500, now in its 28th year.

Founded by Drs. Lisa G. Shaffer, Ph.D. and Bassem A. Bejjani, M.D. in 2003, Signature was the first laboratory to provide microarray-based diagnostic testing of individuals with developmental disabilities with its proprietary SignatureChip®. Opening its doors with three employees, Signature began offering testing in March of 2004, and by August of that year was making a profit. In 2007, Signature began offering research-use-only microarrays for sale to laboratories for in-house use. In 2007, Ampersand Ventures, a private equity firm focusing on investments in the health care and industrial technology sectors, and in 2008 jVen Capital, a life sciences investment company with a focus in the areas of biotechnology, diagnostics, and medical devices, acquired stakes in Signature. The company posted $18.2 million in revenue in 2008, up from $13.5 million in 2007. Signature now has over 120 employees and has made over 8,000 diagnoses since its inception. Last year, Signature was ranked 114th overall and 5th in health care.

Said Shaffer, "We are excited to have made the list two years in a row. Each year will be more difficult than the last, but to think that there are over 27 million businesses in the U.S. and that we are ranked 1012th among the fastest-growing private companies is astonishing to us."

"Savvy trend spotters and those who invest in private companies know that the Inc. 5000 is the best place to find out about young companies that are achieving success through a wide variety of unprecedented business models, as well as older private companies that are still expanding at an impressive rate," said Inc. 5000 project manager Jim Melloan. "That's why our list is so eagerly anticipated every year."

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Signature Genomics CEO Lisa G. Shaffer, Ph.D., Named Ernst & Young Entrepreneur Of The Year® 2009 Award Finalist in the Pacific Northwest

Spokane, Wash., 06/26/2009 - Signature Genomics, which performs microarray-based diagnostic genetic testing of chromosome abnormalities in individuals with unexplained mental retardation and/or birth defects, today announced that President and CEO Dr. Lisa G. Shaffer, Ph.D. received the Ernst & Young Entrepreneur Of The Year® 2009 Award in the Life Sciences category in the Pacific Northwest. According to Ernst & Young LLP, the award recognizes outstanding entrepreneurs who are building and leading dynamic, growing businesses. Dr. Shaffer was selected by an independent panel of judges, and the award was presented at a gala event at the Sheraton Seattle on June 26, 2009.

"I am honored to be recognized for our company's innovative approach to the genetic diagnosis of mental retardation and birth defects," said Dr. Shaffer. "Signature has provided testing to over 36,000 families, and it is the thank-yous from grateful parents, some of whom have been searching for years for answers, that drive our continued innovation."

Dr. Lisa G. Shaffer, Ph.D. is an internationally respected expert on the chromosomal basis of human genetic disease. Dr. Shaffer received her B.S. in Biology from Washington State University and her Ph.D. in Human Genetics in 1990 at the Medical College of Virginia. After Dr. Shaffer completed her training as a clinical cytogeneticist at Baylor College of Medicine in Houston, she became the Director of the Kleberg Cytogenetics Laboratory at Baylor in 1992 and remained the director until 2001. She was appointed as an Assistant Professor in 1992, tenured Associate Professor in 1997, and tenured Full Professor in 2002. In 2002, Dr. Shaffer moved to Washington State University in Spokane, Washington, where she was a Professor in Molecular Biosciences at Washington State University until 2008.

In 2003, Dr. Shaffer and her colleague Bassem A. Bejjani, M.D. co-founded Signature and became the first laboratory to provide microarray-based diagnostic testing of individuals with developmental disabilities with its proprietary SignatureChip®. Signature now has 116 employees and has made over 8,000 diagnoses since its inception. Signature's microarrays are now offered for both pre- and postnatal identification of DNA alterations associated with genetic disease.

The Ernst & Young Entrepreneur Of The Year awards celebrate their 23rd anniversary this year. The program honors entrepreneurs who have demonstrated exceptionality in such areas as innovation, financial performance and personal commitment to their businesses and communities.

"We are proud to recognize the achievements of Dr. Shaffer," said Greg Beams, Ernst & Young LLP Entrepreneur Of The Year Program Director for the Pacific Northwest. "Award recipients of the Entrepreneur Of The Year award build leading businesses and contribute significantly to the strength of our region's economy. Their success helps our area grow stronger."

As a Pacific Northwest award recipient, Dr. Shaffer is now eligible for consideration for the Ernst & Young LLP Entrepreneur Of The Year 2009 national program. Award recipients in several national categories, as well as the overall national Ernst & Young Entrepreneur Of The Year award recipient, will be announced at the annual awards gala in Palm Springs, California on November 14, 2009. The awards are the culminating event of the Ernst & Young Strategic Growth Forum, the nation's most prestigious gathering of high-growth, market-leading companies.

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Signature Genomics Announces Appointment of New Laboratory Directors

Spokane, Wash., 06/25/2009 - Signature Genomics has appointed two new laboratory directors, Drs. Marilyn Slovak, Ph.D., and J. Britt Ravnan, Ph.D. Signature, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained mental retardation and/or birth defects, anticipates the appointments will help the company manage its steadily increasing volume of cases.

Dr. Slovak is an expert in the field of cancer genetics. She joins Signature from the City of Hope National Medical Center in Duarte, Cali., where she was Director of Cytogenetics and Professor of Pathology. Dr. Slovak is an American Board of Medical Genetics (ABMG)-certified clinical cytogeneticist and a founding Fellow of the ABMG College. Dr. Slovak has co-authored over 125 peer-reviewed publications and six book chapters in the field of cancer genetics and was recently, along with Signature President and CEO Lisa G. Shaffer, Ph.D., one of the co-editors of the 2009 Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. Dr. Slovak received her Ph.D. in Regulatory Biology from Cleveland State University and completed her postdoctoral training in Cytogenetics and Molecular Genetics at the University of Arizona.

Also an ABMG-certified clinical cytogeneticist, Dr. Ravnan joins Signature from Genzyme Genetics in Santa Fe, N.M., where she was Cytogenetics Laboratory Director for 11 years. Prior to her tenure at Genzyme, Dr. Ravnan held the same post at Kaiser Permanente Northern California Regional Cytogenetics Laboratory in San Jose, Cali. Dr. Ravnan received her Ph.D. in Genetics from Stanford University and completed her postdoctoral fellowship in Medical Genetics at the University of California-San Francisco. She is licensed in the state of Florida in cytogenetics and New York state in cytogenetics and molecular and cellular tumor marker oncology.

"Drs. Slovak and Ravnan are exemplars in the fields of cancer genetics and medical genetics, respectively, and as Signature grows and positions itself as a leader in diagnostic testing in genetic disease and oncology, we anticipate their expertise will be invaluable," said Dr. Shaffer. "The addition of Drs. Slovak and Ravnan ensures our team of board-certified laboratory directors will be able to meet the growing diagnostic demands of our company."

Drs. Slovak and Ravnan join ABMG-certified Laboratory Directors Beth Torchia, Ph.D., Roger Schultz, Ph.D., Allen Lamb, Ph.D., Trilochan Sahoo, Ph.D. and Gail Wenger, Ph.D. at Signature.

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Signature Genomic Laboratories detects chromosome abnormalities in individuals with genetic disorders associated with susceptibility to cancer

Spokane, Wash., 05/13/2009 - Geneticists at Signature Genomic Laboratories recently demonstrated that microarray-based genetic testing can identify chromosome abnormalities that cause genetic disorders associated with susceptibility to cancer prior to the onset of symptoms.

In their study, to be published in the May issue of Genetics in Medicine, geneticists from Signature reviewed data from 18,437 individuals who were tested by microarray analysis for unexplained mental retardation and congenital anomalies. DNA copy number gains or losses that encompassed gene regions associated with recognized genetic conditions with an increased risk for cancer were identified in 34 individuals. Almost three-quarters of those individuals had indications for study that were not specific to the diagnosed syndrome and therefore presumably did not have signs of cancer. The authors describe multiple instances in which early diagnosis improved medical management of the patient and allowed for early surveillance of cancer onset.

"It is well known that microarray analysis allows for diagnosis of genetic syndromes at an early age that otherwise may not be diagnosed until onset of symptoms later in life," said Dr. Bassem A. Bejjani, M.D., Chief Medical Officer of Signature and senior author of the study. "However, this study shows the impact of early diagnosis is even more profound when a syndrome is associated with childhood-onset cancer, in which the threat of cancer is added to the child's other medical issues."

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Signature Genomic Laboratories detects chromosome abnormalities in individuals with Pallister-Killian syndrome without invasive skin biopsy

Spokane, Wash., 05/07/2009 - Geneticists at Signature Genomic Laboratories have demonstrated that microarray-based genetic testing can identify a rare genetic disorder using DNA from blood rather than the more-invasive skin biopsy routinely used for testing.

Pallister-Killian syndrome (PKS) is a rare genetic disorder characterized by mental retardation, seizures, streaks of hypo- or hyperpigmentation and coarse facial features. PKS results from the presence of four, rather than the normal two, copies of the short arm of chromosome 12 in some of the body's cells. The extra fragments of DNA usually cannot be identified in the cultured cells derived from blood used for conventional chromosome analysis, necessitating a painful skin biopsy for diagnosis.

In their study, published in the May issue of the American Journal of Medical Genetics, geneticists at Signature reported eight individuals referred for testing for unexplained mental retardation or developmental delay in whom microarray analysis of uncultured DNA from peripheral blood identified a two-copy gain of the short arm of chromosome 12. In all but one individual, traditional cytogenetic analysis using cultured cells could not identify the abnormality, a discrepancy the authors attribute to the inability of abnormal cells to compete with normal cells during the culturing process required for conventional chromosome analysis. The authors suggest that, because it does not require cultured cells for analysis, microarray analysis can better detect chromosome abnormalities that are not present in every cell.

"These results show that microarray analysis can circumvent some of the inherent technical limitations of traditional chromosome analysis in the identification of abnormalities that are not present in every cell," said Dr. Lisa G. Shaffer, Ph.D., President and CEO of Signature and senior author of the study. "Furthermore, although Pallister-Killian syndrome is rare, individuals suspected to have the disorder can be tested using DNA derived from a simple blood draw rather than submit to a painful and invasive skin biopsy."

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Signature Genomic Laboratories Announces Appointment of New Laboratory Director

Spokane, Wash., 04/13/2009 - Signature Genomic Laboratories has appointed Trilochan Sahoo, M.D., as a Laboratory Director.

Prior to joining Signature, Dr. Sahoo spent six years as an Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, Texas. Dr. Sahoo received his M.D. in Clinical Microbiology from Christian Medical College and Hospital, Vellore, India and completed his post-doctoral training at the Government of India Department of Biotechnology and the Duke University Medical Center Departments of Microbiology and Genetics. Dr. Sahoo is certified by the American Board of Medical Genetics in Clinical Cytogenetics and completed his training under Signature President and CEO Lisa G. Shaffer, Ph.D. during her tenure at Baylor.

"Having worked with Dr. Sahoo for several years prior to his appointment at Signature, I know he is is well-regarded in the field of cytogenetics and will bring to Signature considerable expertise," said Lisa G. Shaffer, Ph.D., President and CEO of Signature. "The addition of Dr. Sahoo ensures our team of board-certified laboratory directors will be able to meet the growing diagnostic demands of our company."

Dr. Sahoo joins Signature Laboratory Directors Beth Torchia, Ph.D., Roger Schultz, Ph.D., Allen Lamb, Ph.D., and Gail Wenger, Ph.D.

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2009 Signature Genomic Laboratories Travel Award Winner Announced

Bethesda, MD - April 2, 2009 - Kathy M. Chun, PhD, FACMG was honored as the 2009 recipient of the Signature Genomic Laboratories Travel Award at the American College of Medical Genetics (ACMG) 2009 Annual Clinical Genetics Meeting in Tampa, Florida. Dr. Chun is Director, Cytogenetics and Molecular Genetics at the North York General Hospital in Toronto, Canada. Dr. Chun received her PhD from the University of Toronto in Biochemistry.

A new award in 2008, the Signature Genomics Travel Award is given to a selected student, trainee or junior faculty ACMG member whose abstract submission was chosen as a platform presentation during the ACMG Annual Clinical Genetics Meeting. The ACMG program committee selects the Travel Award recipient based on scientific merit. In recognition of the selected presentation, Signature Genomics covers the travel costs for the recipient to the ACMG meeting.

"The American College of Medical Genetics Foundation is grateful to Signature Genomics for their generous support of up-and-coming medical genetic researchers through the Signature Genomics Travel Award," said R. Rodney Howell, MD, FACMG, president of the ACMGF.

"Signature supports the recognition of outstanding young researchers in the field of medical genetics, "said Lisa G. Shaffer, PhD, president and CEO of Signature Genomics. "We are proud to be sponsoring this award."

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Researchers at Signature Characterize Previously Unrecognized DNA Gains on Human Chromosome 22

Spokane, Wash., 03/04/2009 - Researchers at Signature Genomic Laboratories recently characterized 18 individuals with submicroscopic gains of DNA on chromosome 22 and suggest that duplication alone may not account for the clinical features in those individuals.

In the study, published in Human Molecular Genetics, researchers identified 18 individuals with duplications of the long arm of chromosome 22 distal (nearer to the end of the chromosome) to the DiGeorge/velocardiofacial syndrome region in almost 20,000 individuals with unexplained mental retardation and congenital anomalies referred to the laboratory for microarray testing. The clinical features of the individuals varied widely, with contradicting clinical features—large head versus small head, for example—present in some. In addition, there appeared to be no correlation between the severity of the individuals' clinical features and the size or location of their duplications. Of 11 cases for whom parental DNA samples were available for testing, one had a duplication not present in either parent and 10 inherited the microduplication from a parent, two of whom reportedly have learning problems or developmental delay. Because some of the duplications were inherited from a clinically normal parent, the clinical significance of these duplications is unclear and may require an as-yet unidentified genetic modifier for medical problems to occur.

"Although further studies are required to determine what role these duplications play in the patients' clinical features, microarray analysis was essential for identifying this novel chromosome abnormality. Their highly variable clinical features—and the lack of similar patients reported in the literature—would have prevented their identification without this technology," said Justine Coppinger, Certified Genetic Counselor at Signature and lead author of the study. "These cases are an excellent example of how microarray technology can provide answers that traditional methods of genetic testing cannot."

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Signature Genomic Laboratories Receives New York State Clinical Laboratory Permit

Spokane, Wash., 02/24/2009 - Signature Genomic Laboratories, LLC, announced that it has received its New York Clinical Laboratory Permit. The permit allows Signature to receive specimens drawn by clinical laboratories in the state of New York, in accordance with the New York State Department of Health, Wadsworth Center's Clinical Laboratory Evaluation Program. Signature is the first laboratory to receive a New York permit to perform microarray-based comparative genomic hybridization (array CGH). Array CGH is used for the genetic evaluation of individuals with unexplained mental retardation and birth defects.

"This is an incredible opportunity to provide array CGH testing to health-care providers in New York," said Dr. Bassem A. Bejjani, M.D., Chief Medical Officer at Signature. "Patients and health-care providers in New York can now access the full benefits provided by the latest advances in molecular cytogenetic diagnostics. We look forward to offering our full services to this very important state."

"The standards for licensure in the state of New York are very rigorous, so it is a testament to the quality of our laboratory that we received approval from the state," said Catherine D. Kashork, Vice President of Laboratory Operations at Signature.

The New York State Clinical Laboratory Permit is issued annually. Signature is also licensed as an out-of-state clinical laboratory in Rhode Island, Florida and California.

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Signature microarray covers regions of the genome associated with schizophrenia

Spokane, Wash., 02/12/2009 - Signature Genomic Laboratories' flagship microarray, the SignatureChip®, covers regions of the human genome that were known and recently published to be associated with susceptibility to schizophrenia.

A study led by investigators from Duke University and published Feb. 6 in PloS Genetics examined 1073 individuals with schizophrenia and 1148 unaffected control individuals. Among individuals with schizophrenia, investigators identified eight deletions larger than two million base pairs of DNA, none of which were present in the control group or in an additional control group of 1378 individuals. The deletions encompassed loci on chromosomes 1 and 22 that have been previously implicated in schizophrenia and regions on chromosomes 8 and 16 that have not been previously associated with the disease.

In addition to backbone coverage of the genome, the SignatureChip covers more than 1,500 genes involved in developmental disabilities and known syndromes, including coverage over each of the eight loci identified in the Duke study. Signature has tested over 30,000 patients by array CGH and developed a repository of all abnormalities identified in this population. A review of this data shows alterations in these regions in individuals with schizophrenia.

"It is very gratifying when independent studies corroborate the value of the design of our arrays and affirm their clinical utility in the study of neurodevelopmental disorders. We have designed these arrays with specific coverage of areas of the genome that are likely to be associated with such disorders in addition to other developmental disorders such as autism. As a result, we regularly identify newly recognized disease loci and help families in their quest for a diagnosis," said Bassem A. Bejjani, M.D., Chief Medical Officer at Signature.

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Signature Genomic Laboratories Receives Accreditation from College of American Pathologists

Spokane, Wash., 02/09/2009 - Signature Genomic Laboratories, Spokane, Wash., has been awarded an accreditation by the Commission on Laboratory Accreditation of the College of American Pathologists (CAP), based on the results of a recent on-site inspection. The laboratory's director was advised of this national recognition and congratulated for the "excellence of the services being provided." Signature is one of the more than 6,000 CAP-accredited laboratories nationwide.

"At Signature we pride ourselves in maintaining the highest standards for quality controls, facilities management and staff proficiency," said Dr. Beth S. Torchia, Technical Director at Signature. "That we have met the rigorous standards set forth by CAP demonstrates our commitment to high-quality service for patients and health-care providers."

The CAP Laboratory Accreditation Program, begun in the early 1960s, is recognized by the federal government as being equal to or more stringent than the government's own inspection program. During the CAP accreditation process, inspectors examine the laboratory's records and quality control of procedures for the preceding two years. CAP inspectors also examine the entire staff's qualifications, the laboratory's equipment, facilities, safety program and record, as well as the overall management of the laboratory. This stringent inspection program is designed to specifically ensure the highest standard of care for the laboratory's patients.

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Signature Genomic Laboratories Appoints Executive Vice President of Business Development

Spokane, Wash., 12/09/2008 - Signature Genomic Laboratories appointed Lewis Rumpler as Executive Vice President of Business Development. Mr. Rumpler will be responsible for pursuing new business strategies for Signature, a diagnostic laboratory that tests individuals with unexplained mental retardation and birth defects using its proprietary microarrays. Prior to his appointment at Signature, Mr. Rumpler was the Chief Operating Officer of the Institute for Systems Medicine Planning Authority, a non-profit organization dedicated to developing the Institute for Systems Medicine, a biomedical research institute, and Chief Executive Officer for Pacific Northwest Biotechnology, Inc.

Named one of the top 25 business leaders in the Spokane region in 2007 by Inland Northwest Catalyst magazine, Mr. Rumpler has served on the boards of directors of numerous organizations, including the Biotechnology Assocation of the Spokane Region, the Spokane Area Economic Development Council, and the Spokane Chamber Public Policy Council.

"Lewis brings many years of entrepreneurial expertise in the bioscience and biopharmaceutical sectors to his role at Signature," said Lisa G. Shaffer, Ph.D., President and CEO of Signature. "His experience will be an enormous asset as our company plots its strategic growth for the coming years."

Mr. Rumpler received his Bachelor of Science in Cellular and Molecular Biology and his Bachelor of Arts in Zoology from the University of Washington in 1980.

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American Board of Medical Genetics accredits Sacred Heart Medical Center as a Genetics Fellowship Site with Signature Genomic Laboratories as a Partner

Spokane, Wash., 11/24/2008 - Signature Genomic Laboratories announced it will be a partner site for Sacred Heart Medical Center's genetics fellowship program, which recently received accreditation from the American Board of Medical Genetics (ABMG). The accreditation allows M.D.s and Ph.D.s to complete a two-year training program in clinical cytogenetics or clinical molecular genetics at Sacred Heart and partner sites Signature Genomics and Inland Northwest Genetics Clinic.

Sacred Heart's genetics fellowship program is the first without a medical genetics fellowship attached to the laboratory specialties in genetics, which are usually found in university-affiliated hospital fellowship programs, to receive ABMG accreditation.

The availability of microarray testing at Signature was instrumental in the ABMG's decision to offer accreditation, said Bassem A. Bejjani, M.D., co-director of the molecular diagnostics laboratory at Sacred Heart and chief medical officer at Signature. "This will be the first program in which microarray testing is a major part of the curriculum," he said. "For Signature to receive accreditation as a partner site demonstrates the ABMG recognizes the role that microarray testing will play in medical genetics."

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Signature Genomic Laboratories Makes Genoglyphix Microarray Visualization Program Available to Full-Service Clients

Spokane, Wash., 11/07/2008 - Signature Genomic Laboratories announced it has made its Genoglyphix® microarray visualization program available to its full-service clients.

Previously available only to laboratories that analyze microarray results using Signature research-use-only microarrays in-house, the HIPAA-compliant Genoglyphix service allows users to visualize microarray test results for their patients over a secure online server. For each patient, the Genoglyphix Genome Browser shows the syndromes and genes in the affected region, and links to the RefSeq, Online Mendelian Inheritance in Man (OMIM), and PubMed databases provide access to the latest research available online. Through the browser, users can also access the Database of Genomic Variants to identify common copy number variants.

"One of our primary objectives is to provide medical professionals with the greatest amount of useful information for the medical management of their patients," said Bassem Bejjani, M.D., Chief Medical Officer at Signature. "Microarrays give us an unprecedented amount of information; the Genoglyphix service allows our clients to access and analyze that information in a user-friendly setting."

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Signature Genomic Laboratories Announces Release of Enhanced Microarray for Prenatal Diagnosis

Spokane, Wash., 11/05/2008 - Signature Genomic Laboratories announced the release of an enhanced microarray for the prenatal detection of chromosome abnormalities that result in missing or extra pieces of DNA.

The first tier of Signature's Prenatal Service, the enhanced PrenatalChip® targets over 100 discrete chromosomal regions, the gain or loss of which results in a genetic disorder, while minimizing coverage of regions of unknown clinical significance. Signature's whole-genome microarray, the SignatureChipWG, can be ordered if more coverage is required—especially in cases with abnormal findings by ultrasound.

"Pregnancy can be a time of great anxiety, particularly if a genetic disorder is suspected," said Justine Coppinger, Certified Genetic Counselor at Signature. "We approach prenatal diagnosis responsibly, balancing timely, comprehensive diagnoses with the desire to minimize anxiety over unclear results. We encourage physicians to discuss the most appropriate test for their patients with our certified genetic counselors."

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Allen Lamb, Ph.D. joins the team of Laboratory Directors at Signature Genomic Laboratories

Spokane, Wash., 11/03/2008 - Signature Genomic Laboratories has appointed Allen Lamb, Ph.D., as a Laboratory Director.

Prior to joining Signature, Dr. Lamb was a Medical Director in the Cytogenetics Laboratory at University of Utah's ARUP Laboratories and an associate professor of clinical pathology in the Department of Pathology at the University of Utah School of Medicine, following a 16-year tenure at Genzyme Genetics. Dr. Lamb is a founding fellow of the American College of Medical Genetics and is certified by the American Board of Medical Genetics in clinical cytogenetics and clinical molecular genetics. Dr. Lamb received his Ph.D. in Molecular Biology and Biochemistry from Wesleyan University and completed his postgraduate training at the University of North Carolina and Harvard Medical School.

"Dr. Lamb is highly respected in the field of cytogenetics and brings to Signature many years of experience," said Lisa G. Shaffer, Ph.D., President and CEO of Signature. "The addition of Dr. Lamb ensures our team of board-certified laboratory directors will be able to meet the growing diagnostic demands of our company."

Dr. Lamb joins Signature Laboratory Directors Beth Torchia, Ph.D., Roger Schultz, Ph.D., Gail Wenger, Ph.D., Trilochan Sahoo, M.D., and Julie Biggerstaff, Ph.D.

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Signature Genomic Laboratories Announces Appointment of New Laboratory Director

Spokane, Wash., 10/06/2008 - Signature Genomic Laboratories has appointed Roger Schultz, Ph.D., as Laboratory Director.

Dr. Schultz was previously the Associate Director of Cytogenetics of Veripath Laboratories at the University of Texas Southwestern, capping a 15-year appointment at the university. Dr. Schultz' research there focused on the roles of genome stability and DNA repair mechanisms in human disease; he has co-authored over 70 scholarly articles on the subjects. Dr. Schultz received his Ph.D. in Genetics at Michigan State University and completed his postdoctoral fellowship at Stanford University School of Medicine.

"Dr. Schultz brings to Signature impressive records in the field of cytogenetics, with many years' experience making diagnoses for patients with chromosome abnormalities and mental retardation and birth defects," said Lisa G. Shaffer, Ph.D., President and CEO of Signature. "His appointment enables Signature to continue offering timely diagnoses for the rapidly growing number of patients we test."

Dr. Schultz joins Signature Laboratory Directors Beth Torchia, Ph.D., Gail Wenger, Ph.D., Trilochan Sahoo, M.D., and Julie Biggerstaff, Ph.D..

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Researchers at Signature Characterize Previously Unrecognized Genetic Disorder

Spokane, Wash., 10/08/2008 - Researchers at Signature Genomic Laboratories recently reported two individuals with microscopic losses of DNA from the long arm of chromosome 16 and suggested this deletion represents a previously unappreciated syndrome.

In the study, published in the journal Clinical Genetics, the two individuals with deletions of the long arm of chromosome 16 were identified among more than 22,000 patients with unexplained mental retardation and birth defects referred to Signature for testing. Both patients' deletions encompassed the gene SALL1, mutations of which are hypothesized to cause Townes-Brocks syndrome, a rare autosomal-dominant condition characterized by anal, renal, limb, and ear malformations. However, neither individual had clinical features suggestive of Townes-Brocks syndrome, and their common clinical features, as well as those of individuals in another report, suggested deletions of this segment of chromosome 16 represented a distinct, emerging syndrome.

"Although further studies are required to determine what role these deletions play in the patients' clinical features, microarray analysis was essential for identifying this novel chromosome abnormality. Their highly variable clinical features—and the rarity of similar patients reported in the literature—would have prevented their identification without this technology," said Dr. Blake C. Ballif, Ph.D., Director of Product Development and Research at Signature and lead author of the study. "These cases are an excellent example of how microarray technology can provide answers that traditional methods cannot."

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Signature Genomic Laboratories Named to Inc. 5000

Spokane, Wash., 08/20/2008 - Signature Genomic Laboratories was named to Inc. magazine's "Inc. 5000" list of the fastest-growing private companies in the country. The Spokane-based company, which provides microarray-based diagnostic genetic testing for individuals with mental retardation/developmental delay, autism and birth defects, was ranked 114 overall and 5th in the Health sector, with 1,766.4% three-year growth from 2004 to 2007. Signature was ranked 1st overall in Spokane and 4th in the state of Washington.

Commented Lisa G. Shaffer, Ph.D., President and CEO of Signature, "We are honored to be recognized for our well-planned strategic growth, which we have accomplished while maintaining the level of personal service and technical expertise on which our reputation was built."

The 2008 Inc. 5000 list measures revenue growth from 2004 through 2007. To qualify, companies must be U.S.-based and privately held, for profit, independent—not subsidiaries or divisions of other companies—as of December 31, 2007, and have had at least $200,000 in revenue in 2004, and $2 million in 2007.

Founded by Drs. Lisa G. Shaffer, Ph.D. and Bassem A. Bejjani, M.D. in 2003, Signature was the first laboratory to provide microarray-based diagnostic testing of individuals with mental retardation and birth defects with its proprietary SignatureChip®. Opening its doors with three employees, Signature began offering testing in March of 2004, and by August of that year was making a profit. In 2006, Signature posted over $9 million in revenue; the company posted $13.5 million in revenue in 2007. In 2007, Signature began offering research-use-only microarrays for sale to laboratories for in-house use. In 2007, Ampersand Ventures, a private equity firm focusing on investments in the health care and industrial technology sectors, and in 2008 jVen Capital, a life sciences investment company with a focus in the areas of biotechnology, diagnostics, and medical devices, acquired stakes in Signature. In June, Signature relocated to a new 18,000-square-foot facility in north Spokane; the new headquarters provides the wet-laboratory and administrative space necessary to accommodate Signature's rapid growth. Signature now has 76 employees and has processed over 25,000 cases since its inception.

"Our second annual Inc. 5000 continues the most ambitious project in business journalism," said Inc. 5000 Project Manager Jim Melloan. "The Inc. 5000 gives an unrivalled portrait of young, underreported companies across all industries doing fascinating things with cutting-edge business models, as well as older companies that are still showing impressive growth."

"It's the first time in my life I've ever received thank-you notes from families because we are able to give them answers," said Shaffer. "We're truly making a difference in their lives."

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Shaffer, of Signature Genomic Laboratories, Named Top Female CEO

Spokane, Wash., 08/20/2008 - Inc. magazine ranked Lisa G. Shaffer, President & CEO of Signature Genomic Laboratories, 8th on its list of top female CEOs in the fastest-growing private companies in America. The list was released in conjunction with the magazine's "Inc. 5000," naming the 5,000 fastest-growing private companies in America; Signature Genomic Laboratories was ranked 114 overall.

Dr. Shaffer co-founded Signature in 2003 with Bassem A. Bejjani, M.D. Dr. Shaffer developed a microarray-based method for detecting submicroscopic segments of missing or extra DNA in individuals with mental retardation and birth defects. Signature opened its doors with three employees and began offering diagnostic testing in 2004; the company now employs 76 and to date has processed over 25,000 clinical cases.

Commented Dr. Bejjani, Chief Medical Officer of Signature, "In the midst of a very successful academic career that would satisfy any professional, male or female, Dr. Shaffer undertook an enormous professional and personal risk and entered the private sector to pioneer the use of a technology that was untested in the clinical setting at that time. Having closely worked with Dr. Shaffer for 13 years, I know that she is never less than perfect in her endeavors. Therefore, although this is a highly exclusive list, I am not surprised to see Dr. Shaffer's name on it."

Evan Jones, Chairman of the Board of Directors of Signature Genomic Laboratories, commented, "Lisa Shaffer has done an outstanding job building Signature into a leading genetic testing business in just four years. Congratulations to Lisa and the entire Signature team for this important recognition from Inc."

Dr. Shaffer is an internationally respected expert on the chromosomal basis of human genetic disease. Currently she is the North American Editor for the journal Molecular Cytogenetics, and on the editorial boards of the journals Genetics in Medicine, Prenatal Diagnosis, and Cytogenetics and Genome Research. Dr. Saffer has authored over 200 scholarly articles and almost two dozen book chapters. She is the chair of the International Standing Committee on Human Cytogenetics Nomenclature (ISCN) and is a Board member and the Treasurer of the American College of Medical Genetics. Dr. Shaffer received her B.S. in Biology from Washington State University and her Ph.D. in Human Genetics at the Medical College of Virginia.

Signature Genomic Laboratories Signs Long-Term Supply Agreement with Agilent Technologies for Oligo Microarrays

SPOKANE, WA and SANTA CLARA, Calif., May 15, 2008 - Signature Genomic Laboratories, LLC (Signature) and Agilent Technologies, Inc. (NYSE: A), today announced they have signed a long-term supply agreement in which Agilent will supply custom oligonucleotide microarrays based on the Signature-designed SignatureChip Oligo Solution™ (SignatureChipOS™) to Signature and its customers.

Terms of the agreement were not disclosed.

The SignatureChipOS is designed for the detection of chromosome abnormalities in individuals with mental retardation/developmental delay, autism and congenital anomalies. The 105,000-feature, 60-mer microarray covers over 150 syndromes, the subtelomeric and pericentromeric regions, and more than 500 genes in important developmental pathways. "We are committed to giving our customers the best services and technology available, and this agreement reflects this focus," said Lisa G. Shaffer, Ph.D., President and CEO of Signature. "Oligo arrays have improved dramatically in the past few years and we are delighted there are now oligos that meet our high standards. This supply agreement also allows our Genoglyphix® customers the opportunity to use high quality oligo arrays for research applications in their laboratories."

We're very pleased about this agreement, which is the latest example of how the marketplace is recognizing the value of our highly-flexible, high quality oligo synthesis capability," said Yvonne Linney, Ph.D., Agilent Vice President and General Manager, Genomics. "We're delighted to work with Signature Genomic Laboratories who specialize in microarray technology, and is an innovative leader in microarray testing."

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Signature Reports Investment in Company and Appointment of New Chairman of Board of Directors

Spokane, Wash., 06/25/2008 - Signature Genomic Laboratories, LLC announced today that jVen Capital, a life sciences investment company with a focus in the areas of biotechnology, diagnostics, and medical devices, has acquired an equity interest in the company. In conjunction with the investment Evan Jones, the principle of jVen Capital, has been appointed Chairman of Signature's Board of Directors.

Prior to establishing jVen Capital in 2007, Mr. Jones was co-founder and Chairman of the Board of Directors of Digene Corp., a publicly traded biotechnology firm that specialized in DNA-based diagnostic tests for human papillomavirus (HPV), the virus that causes cervical cancer. Mr. Jones served as CEO of Digene from 1990 to 2006 and President from 1990 to 1999. Digene was purchased by Qiagen in 2007 for $1.6 billion.

Paul R. Billings, M.D. Ph.D., the outgoing Chairman of Signature's Board of Directors, commented, "We are excited to have Evan join the Board of Directors at Signature. Evan has a proven reputation directing and investing in life sciences companies, and we are confident that Evan will apply that acumen to facilitating Signature's growth."

Mr. Jones commented, "I am enthusiastic about joining the Signature team. Since the company's founding five years ago Signature has become the leading provider of microarray-based DNA diagnostic testing. It's an exciting opportunity to be involved with such a strong team and to have the opportunity to help the company capitalize on its unique market position in the emerging fields of molecular genetics and personalized medicine."

Mr. Jones is currently Chairman of the Board of Directors of the Children's Research Institute at the Children's National Medical Center; Chairman of the Campaign for Public Health, an independent, not-for-profit organization dedicated to increasing the budget for the Centers for Disease Control and Prevention; a member of the Board of Directors and the Executive Committee of Research!America, an organization advocating increased funding for medical research; and a member of the board of the Friends of the National Library of Medicine. Mr. Jones received a B.A. in Biochemistry from the University of Colorado and an M.B.A. from The Wharton School at the University of Pennsylvania.

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Researchers at Signature Characterize Previously Unreported Microduplication

Spokane, Wash., 05/15/2008 - Microscopic deletions of chromosome 3q29 have been described recently in individuals with mental retardation and highly variable clinical features. All individuals reported to date have the same-sized deletion. Because this region of chromosome 3 is thought to be caused by recombination between flanking segments of highly repetitive DNA sequences, duplications of 3q29 should occur with the same frequency as deletions. However, with the exception of one three-generation family, no individuals with microduplications of 3q29 have been reported. Researchers at Signature Genomic Laboratories recently characterized 19 individuals with 3q29 microduplications and suggest that duplication alone may not account for the clinical features in those individuals.

In the study, published in the journal Molecular Cytogenetics, researchers identified 19 individuals with microduplications of 3q29 in almost 20,000 individuals with unexplained mental retardation and congenital anomalies referred to the laboratory for microarray testing. The clinical features of the individuals varied widely, with mental retardation the only feature common to all patients. Surprisingly, only five individuals had reciprocal duplications that were the same size and location as the 3q29 microdeletion; the remaining 14 duplications flank, span, or partially overlap the common deletion region. This suggests other factors besides the segmental duplications that cause the common-sized 3q29 deletions play a role in rearrangements of this region. Because some of the duplications were inherited from a clinically normal parent, the clinical significance of these duplications is unclear and may require an as-yet unidentified genetic modifier for medical problems to occur.

"Although further studies are required to determine what role, if any, these duplications play in the patients' clinical features, microarray analysis was essential for identifying this novel chromosome abnormality. Their highly variable clinical features-and the lack of similar patients reported in the literature-would have prevented their identification without this technology," said Dr. Blake C. Ballif, Ph.D., Director of Product Development and Research at Signature and lead author of the study. "These cases are an excellent example of how microarray technology can provide answers that traditional methods cannot."

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Ampersand Ventures Invests in Signature Genomic Laboratories

Spokane, Wash., 23 January 2008 - Ampersand Ventures, a private equity firm focusing on investments in the health care and industrial technology sectors, has acquired a stake in Signature Genomic Laboratories, LLC. In conjunction with the investment, Ampersand partners David J. Parker and Herbert H. Hooper, Ph.D. have been appointed to Signature's board of directors. They join current board members Lisa G. Shaffer, Ph.D., Signature's president and CEO; Bassem A. Bejjani, M.D., Chief Medical Officer of Signature; and Ryland "Skip" Davis, Chief Executive of Providence Strategic Ventures, a division of Providence Health and Services. Ampersand joins Sacred Heart Medical Center and Pathology Associates Medical Laboratories as investors in the company.

"We are very excited about Ampersand partnering with us because they will allow Signature to position itself favorably in this growing market," said Dr. Shaffer. "With both Ampersand's and Providence's experience in the clinical laboratory services industry, we are in an excellent position to identify new partners for strategic growth."

Mr. Parker commented, "We are pleased to have the opportunity to support Signature's growth in the rapidly evolving market for microarray-based cytogenetic testing. Signature has established an attractive, growing business in this market through its strong clinical expertise, high-quality customer service and superior technology implementation. We look forward to working with Signature's management team to help take the company to the next level."

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Signature microarray covers regions of the genome associated with autism

Spokane, Wash., 10 January 2008 - Signature Genomic Laboratories' flagship microarray, the SignatureChip Whole GenomeTM (SignatureChipWGTM), covers a region of the human genome that was recently associated with autism.

A story in the New York Times published Jan. 10 reports on a study by researchers from the Autism Consortium showing approximately 1% of individuals with autism have missing a small segment of the short arm of one of their chromosomes 16. The study, originally published in the New England Journal of Medicine, corroborates findings published last month in the scientific journal Human Molecular Genetics, in which researchers from the University of Chicago and Roswell Park Cancer Institute in Buffalo, N.Y. identified similar deletions in two children with autism.

The SignatureChipWG, the latest version of Signature's proprietary SignatureChip microarray, has extensive coverage of this region of chromosome 16. Since the introduction of the SignatureChipWG in November, Signature has recorded seven losses and four gains of the autism region among 1,283 cases tested.

In addition to the region recently reported, the SignatureChipWG covers over 30 regions of the genome associated with autism.

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Microdeletion syndrome discovered by Signature profiled in New York Times

Spokane, Wash., 10 January 2008 - Two children with a genomic disorder first reported by researchers at Signature Genomic Laboratories, LLC were recently profiled by the New York Times.

The two children were among four individuals referred to Signature for genetic testing who were diagnosed using the SignatureChip targeted microarray with a submicroscopic deletion on the short arm of chromosome 16. The syndrome, the clinical features of which include mental retardation, distinct facial features, short stature, heart defects and feeding difficulties, was first decribed in the scientific journal Nature Genetics in an article titled "Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2." The Times story describes how the girls' families, both of which reside in Kentucky, met following publication of the research paper; for both families, it was the first time they had met another individual with this rare chromosome abnormality.

"I think this is the kind of story we will hear about more often as microarray technology becomes more widely used," said Dr. Lisa G. Shaffer, PhD, Chief Executive Officer and Director of Signature Genomic Laboratories. "Some of these families have been searching for years for what is causing their children's health problems, and microarrays are finally able to give them answers."

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Signature Genomic Laboratories was the first laboratory to provide microarray based cytogenetic diagnostics with its proprietary SignatureChip® and is the leader in providing microarray based chromosome analysis. Signature's worldwide client base includes clinical geneticists, neurologists, pediatricians, neonatologists, obstetricians, and the research community.