October 21, 2015 11:30pm EDT
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Focus is on Genetic Diagnosis of Rare Disease
PITTSBURGH--(BUSINESS WIRE)--
OPKO Health, Inc. (NYSE:OPK) announced today that GeneDx, a business
unit of OPKO will be presenting at the National Society of Genetic
Counselors (NSGC) 34 th Annual Education Conference in
Pittsburgh, PA. GeneDx staff and genetic counselors will participate at
the conference as individual speakers, poster presenters and exhibitors.
GeneDx is also sponsoring a networking reception with partners and
GeneDx BOOTH: #115
RSVP
here for the Annual GeneDx Happy Hour
When: Thursday, October
22, at 8:00pm
Where: Il Tetto Rooftop Bar at Sienna Mercato
GeneDx Lunch Session and Presentation
Diagnostic
Testing, Evolving Phenotypes, and Impact on Patient Care: A
GeneDx Update on XomeDxXpress and Inherited Cancer Testing
When: Friday, October 23 at 11:45 pm
Where: Allegheny Grand
Ballroom, Westin Hotel
Who: Sara Knapke, MS, CGC; Audra Bettinelli,
MS, CGC; Stephanie DeWard, MS, CGC
GeneDx Individual Speaker Presentations
Pre‐Conference
Symposium ‐ Diagnostic Exome Sequencing as the Standard of Care
Wednesday, October 21 at 9:00 am
Where: Room 315/316
Who: Jane
Juusola, PhD, FACMG
Concurrent Paper Session (Clinical Care: Pediatrics & Adult Track) ‐ The
Clinical Utility of a Multi‐Gene Panel for Neuromuscular Disorders
(#1311)
When: Saturday, October 24 at 3:15 pm
Where: Room
315/316
Who: Meg Bradbury, MS, CGC, MSHS
GeneDx Poster Presentations
NOTE: Odd
Numbered Posters: Thursday, October 22, 2015 2:00 pm – 3:00 pm
Even
Numbered Posters: Friday, October 23, 2015 1:15 pm – 2:15 pm
Poster# 64
Comparing Yields and Referral Criteria for the
Lynch/Colorectal High Risk Panel and the Colorectal Cancer Panel
Anna
McGill, MS, LCGC
Poster# 78
Yield of Genetic Testing for Hereditary Cancer
Among Male Patients
Kristin Theobald, MS, LCGC
Poster# 153
Genetic Testing Strategies for Patients With
Epilepsy and Neurodevelopmental Disorders
Amy Decker, MS, CGC
Poster# 154
Mutations in SPATA5 Are Associated With a
Novel Autosomal Recessive Disorder of Microcephaly, Intellectual
Disability, Seizures and Hearing Loss
Stephanie DeWard, MS, CGC
Poster# 169
Whole Exome Sequencing Identifies the First
PANX1 Germline Mutation in an Individual with Intellectual Disability,
Hearing Loss, Endocrine Dysfunction and Skeletal Abnormalities
Kara
Levine, MS, CGC
Poster# 192
De Novo Pathogenic Variants in DDX3X Are a
Novel Cause of Intellectual Disability in Females
Leah
Williams, MS, CGC
Poster# 194
Whole Exome Sequencing Identifies POGZ
Mutations as a Cause of Neurodevelopmental Disorders and Microcephaly
Nora
Alexander, MS, CGC
Poster# 218
Mutations in ARID2 Are Associated with
Syndromic Intellectual Disabilities
Rebecca Willaert, MS, CGC
Poster# 268
Compound Heterozygosity of Two MECP2
Deletions with Paternal Inheritance of a Late-Truncating Mutation in a
Female With Atypical Rett Syndrome
Dana Stolar, MS, CGC
View source version on businesswire.com: http://www.businesswire.com/news/home/20151021006852/en/
Sheeran Communication
Lisa Sheeran, +1-510-710-1004
Source: OPKO Health, Inc.
Released October 21, 2015
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