Genetic Testing for Hearing Loss

  • Meet the Team

    The partnership between the Molecular Genetics Laboratory and the Ear and Hearing Center at Cincinnati Children's Hospital Medical Center allows for optimum care of your patients.

    We are staffed by a team of experts who provide guidance in:

    • Test selection
    • Clinical interpretation
    • Medical management and follow-up testing
    • Recommendations for genetic counseling
    • Coordination of studies for at-risk family members
    • Billing and reimbursement

    Clinical interpretations are written in conjunction with our nationally recognized pediatric otolaryngologist, board certified molecular and medical geneticists and genetic counselor. Each report is customized for your patient and includes a detailed interpretation of the genetic findings, the clinical significance of the results and specific recommendations for clinical management and additional testing, if warranted. These specialists are available to you for pre- or post-test consultation.

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    Clinical Experts

    A photo of Amber Begtrup.

    Amber Hogart Begtrup, PhD
    Assistant Director, Molecular Genetics Laboratory

    513-803-3837

    amber.begtrup@cchmc.org

    Amber H. Begtrup, PhD

    Assistant Director, Molecular Genetics Laboratory

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-803-3837

    Email: amber.begtrup@cchmc.org

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    Biography

    Amber Hogart Begtrup received her PhD in genetics with a focus in human genetics from the University of California, Davis in 2003. During her PhD she conducted research to identify underlying molecular etiologies of autism through molecular genetic investigation of human chromosome 15q11-13. In 2003, Dr. Begtrup transitioned to the National Institutes of Health, where she simultaneously performed post-doctoral research in the realm of epigenomics and hematopoietic development and trained in clinical molecular genetics.

    While at the NIH, Dr. Begtrup was funded through the Pharmacology Research Associate Training Program sponsored by the National Institute of General Medical Sciences. During her training, Dr. Begtrup developed interests in bone marrow failure disorders as well as the application of next generation sequencing technologies to clinical genetics.

    Education and Training

    PhD: University of California, Davis.

    Fellowship: Genetics, National Institutes of Health/National Human Genome Research Institute, Bethesda, MD.

    Certification: Clinical Molecular Genetics, 2011.

    Publications

    View PubMed Publications

    Jessica A. Connor, MS

    Phone: 513-803-5247

    Email: jessica.connor@cchmc.org

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    Education and Training

    BS: Genetics, University of Wisconsin Madison, Madison, WI, 2009

    MS: Genetic Counseling, University of Cincinnati, Cincinnati, OH, 2011


    John H. Greinwald Jr., MD, FAAP

    Professor, UC Department of Pediatrics

    UC Department of Otolaryngology – Head and Neck Surgery

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    Biography

    John Greinwald Jr., MD, is a pediatric otolaryngologist at Cincinnati Children's Hospital Medical Center and the Cincinnati Fetal Center.

    Education and Training

    BS: Wofford College, Spartanburg, SC, 1983.

    MD: Medical University of South Carolina, Charleston, SC, 1987.

    Internship: Naval Medical Center, Portsmouth, VA, 1988.

    Residency: Naval Medical Center, Portsmouth, VA, 1995.

    Fellowship: Pediatric Otolaryngology, University of Iowa, Iowa City, IA, 1998.

    Publications

    View PubMed Publications
    A photo of Jennifer Holle.

    Jennifer R. Holle, LGC
    Genetic Counselor, Division of Human Genetics

    513-803-1602

    jennifer.holle@cchmc.org


    No photo available

    Judith A. Johnson, MS, CPM

    Project Manager

    Phone: 513-636-3479

    Email: juditha.johnson@cchmc.org

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    Specialties

    Barriers to genetic counseling;  innovative methods of providing complex genetic information to patients and physicians

    Biography

    Judith Johnson, MS, is a board-certified genetic counselor with extensive experience in many areas of medical genetics. Judith is currently co-investigator in several research projects.  Judith is also a certified Project Manager.

    Education and Training

    MS: Medical Genetics, Indiana University, Indianapolis, IN, 1985.

    MS: Clinical Behavioral Psychology, Eastern Michigan University, Ypsilanti, MI, 1995.

    Certification: Genetic Counseling, 1987; Project Management, 2010

    Publications

    A photo of  Sivakumaran Theru-Arumugam.

    Sivakumaran Theru-Arumugam, PhD
    Associate Director, Molecular Genetics Laboratory

    513-636-4475

    siva.theru_arumugam@cchmc.org

    Sivakumaran Theru-Arumugam, PhD

    Associate Director, Molecular Genetics Laboratory

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-4475

    Email: siva.theru_arumugam@cchmc.org

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    Specialties

    Ophthalmic genetics

    Education and Training

    MSc: Andhra University, India.

    PhD: All India Institute of Medical Sciences, New Delhi, India.

    Fellowship: Harvard Medical School.

    Certification: Clinical Molecular Genetics, 2007.

    Publications

    View PubMed Publications

    A photo of Alexander Valencia.

    C. Alexander Valencia, PhD
    Assistant Director, Molecular Genetics Laboratory

    513-803-9033

    alexander.valencia@cchmc.org

    C. Alexander Valencia, PhD

    Assistant Director, Molecular Genetics Laboratory

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-803-9033

    Email: alexander.valencia@cchmc.org

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    Specialties

    Proteomics, apoptosis, degradomics, protein-protein interactions, genomics, clinical molecular genetics, genetic testing, molecular diagnostics, next-generation sequencing  

    Biography

    C. Alexander Valencia, PhD, is a biochemist and clinical molecular geneticist who has basic and translational research programs in genomics and proteomics. His laboratory studies the biochemical mechanisms of apoptosis through a novel proteomic method called mRNA-display. Moreover, his translational research program, in the area of clinical molecular genetics, addresses the implementation of new molecular diagnostic platforms, including next-generation sequencing, in clinical genetic testing.

    Education and Training

    PhD: Ottawa-Carleton Institute of Biology, Carleton University, Ottawa, ON, 2004.

    Postdoctoral Research Fellowship: Carolina Center for Genome Sciences and Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, NC, 2009.

    Clinical Fellowship: Clinical Molecular Genetics, Department of Human Genetics, Emory University School of Medicine, GA, 2012.

    Publications

    View PubMed Publications
    A photo of Kejian Zhang.

    Kejian Zhang, MD, MBA
    Director, Molecular Genetics Laboratory

    513-636-0121

    kejian.zhang@cchmc.org

    Kejian Zhang, MD, MBA

    Director, Molecular Genetics Laboratory

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-0121

    Fax: 513-636-2261

    Email: kejian.zhang@cchmc.org

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    Specialties

    Clinical Interests

    Molecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions

    Research Interests

    Molecular defects and molecular diagnosis of primary immunodeficiency diseases; Genetic aspects of predictive personalized medicine (pharmacogenetics)

    Education and Training

    MD: Tianjin Medical University, Tianjin, China, 1993

    MBA: University of Cincinnati, College of Business Administration, 2001

    Residency: Gong'an Hospital, Tianjin, China, 1993-1995

    Fellowship: Clinical Molecular Genetics Fellow, Division of Human Genetics, Cincinnati Children's Hospital, 2002-2004

    Publications

    View PubMed Publications

    Grants

    Macrophage Activation Syndrome Biomarkers in Systemic Juvenile Idiopathic Arthritis. Co-investigator. National Institute of Arthritis, Musculoskeletal and Skin Diseases. Aug 2007 - Dec 2012.

    MUNC13-4 gene Polymorphisms in Macrophage Activation syndrome and Systemic Juvenile Idiopathic Arthritis. Co-Investigator. National Institute of Health. Sept 2011 - Aug 2016.