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Ambry Genetics to Present Seven Abstracts at Upcoming ACMG Annual Clinical Genetics Meeting

ALISO VIEJO, Calif., March 2, 2016 /PRNewswire/ -- Ambry Genetics (Ambry), a leader in clinical genetic diagnostics and genetics software solutions, announced today that seven abstracts from the company's scientific internal and external collaborative research will be presented at the 2016 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting taking place March 8-12 in Tampa, FL. The research is part of Ambry's dedication to open scientific exchange for providing new genetic insights to better understand human diseases.

"We look forward to sharing these seven abstracts with the genetics community. They represent our continuing commitment to working with researchers collaboratively to expand our collective knowledge of gene mutations underlying many diseases," said Aaron Elliott, Ph.D., Chief Operating Officer and Interim Chief Scientific Officer, Ambry Genetics. "The breadth of data being presented at the meeting showcases our latest contributions to genetic research in both oncology and neurology, a therapeutic area where much advancement is being made."

Ambry's abstracts can be accessed through the ACMG conference website, The data will remain under strict embargo until the date and time of presentation (details below).

In addition to the abstract presentations, Ambry's Jill Dolinsky, RN, MS, CGC, Senior Manager of Clinical Research, will co-moderate a Scientific Concurrent Session, "Rising to the Level of Clinical Importance: Challenges to Adjudicating and Reporting Variants Discovered with Genomic Analysis" (March 12 at 8:00 am in Ballroom AB).  During the session, genetic experts will discuss the complexities of analyzing the high volume of gene variants that arise from large-scale genomic analysis, especially variants in genes with no known disease link.

"The session at ACMG will be a dynamic discussion exploring how to clearly and accurately report and interpret complex genetic variants," Dolinsky said.  "As a leader in diagnostic exome sequencing, Ambry Genetics excels in providing clinically meaningful interpretation of complex genetic test results.  As of 2015, we have shared nearly 10,000 variants into the public database, ClinVar, including results from exome sequencing, in support of the global research community's efforts to find new genetic markers in disease."

In addition, Erica Smith, PhD, Clinical Genomics Scientist and Layla Shahmirzadi, MS, CGC, Clinical Genomics Product Manager, will give a Theater Presentation, "The Value of Comprehensive Clinical Validity Assessment for Gene Classification in Diagnostic Exome Sequencing" (March 10 at 12:15 pm in the Central Exhibit Hall, Theater 2).  This session will share processes used in Ambry's exome sequencing to strengthen its clinical diagnostics reporting, featuring case examples that illustrate clinical utility, gene reclassification, and other key issues in the field.

Ambry's abstracts being presented, in numerical order, include the following:TitlePresenting AuthorPresentation DetailsDe novo Mutations of
KIAA2022 in Females
Cause Epileptic

K. Helbig, MS

Ambry GeneticsAbstract #43Date: Friday, March 11, 2016

Oral Presentation: 4:45 pm –
5:00 pm ET

Location: Tampa Convention Center

Room: Central Exhibit Hall

 Clinical Diagnostic Exome
Sequencing Identified
Compound Heterozygous
ASPM Gene Alterations in
a Fetus with Marked

C. Alamillo, MS, CGC, Ambry GeneticsAbstract # 44Date: Friday, March 11, 2016

Oral Presentation: 5:00 pm –
5:15 pm ET

Location: Tampa Convention Center

Room: Central Exhibit HallClinical Utility of
Diagnostic Exome
Sequencing in Hereditary

(Top Rated)Z. Powis, MS, CGC

Ambry GeneticsAbstract # 96Date: Friday, March 11, 2016

Poster Presentation: 10:30 am –
12:00 pm ET

Location: Tampa Convention Center

Room: Exhibit/Poster HallIncreasing Uptake of
Hereditary Cancer Multi-
Gene Panel Testing:
Overcoming Initial

K. Fulk, MS, CGC

Ambry GeneticsAbstract # 102Date: Friday, March 11, 2016

Poster Presentation: 10:30 am –
12:00 pm ET

Location: Tampa Convention Center

Room: Exhibit/Poster HallClinical Laboratories
Implement the
ACMG/AMP Guidelines to
Resolve Differences in
Variant Interpretations
Submitted to ClinVar

(Top Rated)S. Harrison, PhD

Harvard Medical School, Partners HealthCare Laboratory for Molecular MedicineAbstract # 189Date: Thursday, March 10, 2016

Poster Presentation: 10:30 am –
12:00 pm ET

Location: Tampa Convention Center

Room: Exhibit/Poster HallFamily Matters: How
Segregation Studies
Reclassify Variants in
Thoracic Aortic Aneurysm
and Dissection Multigene

I. Lu, MS, CGC

Ambry GeneticsAbstract # 243Date: Thursday, March 10, 2016

Poster Presentation: 10:30 am –
12:00 pm ET

Location: Tampa Convention Center

Room: Exhibit/Poster Hall

 Landscape of Variants of
Unknown Significance in
FBN1 Identified in Patients with TAAD and Marfan Syndrome

L. Qin, Ph.D, CGMBS, MB
Ambry GeneticsAbstract # 536Date: Friday, March 11, 2016

Poster Presentation: 10:30 am –
12:00 pm ET

Location: Tampa Convention Center

Room: Exhibit/Poster Hall

Ambry Genetics is a privately-held healthcare information company with the most comprehensive suite of genetic testing solutions for inherited and non-inherited diseases.  Since 1999, Ambry has tested approximately half a million patient samples benefiting 90% of all U.S. patients covered by public and private insurers.  Ambry is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified.  The company leads in clinical genetic diagnostics and genetics software solutions, combining both to offer the most comprehensive testing menu in the industry. Ambry has established a reputation for sharing data while safeguarding patient privacy, unparalleled service, and responsibly applying new technologies to the clinical molecular diagnostics market. For more information about Ambry Genetics, visit

Ambry Genetics
Humberto Huerta
Director of Marketing

Ogilvy Public Relations
Jess Sims

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