Invitae
Boosted Exome

Expertise and quality you can trust

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The Invitae Boosted Exome provides a rigorous analysis of an individual’s exome through a systematic evaluation of genetic variants informed by the patient’s clinical presentation and medical history.

We use highly advanced next-generation sequencing (NGS) capture technology with boosted coverage of medically relevant genes, custom-built bioinformatics solutions to support variant analysis, a phenotype ontology-based tool that uses clinical information to generate a list of relevant genes, the option to add additional genes to the list of genes to be analyzed, analytical solutions to identify other relevant genes through inheritance patterns or impact on gene function, and a team of board-certified geneticists to provide expert interpretation and clearly explained reports.

The Invitae Boosted Exome includes:

  • Advanced NGS capture technology with boosted coverage of medically relevant genes
  • Gene coverage data, providing full transparency prior to placing an order
  • Personalized analysis of your patient’s exome through an Invitae-developed online phenotype selection tool so you can collaborate in selecting the genes to analyze
  • Customized capture baits to enhance the coverage of hard-to-sequence areas of the exome and allow detection of intragenic copy number variants (see technical description on order page for details)
  • Rigorous bioinformatics and expert interpretation that you can trust
  • Average turnaround time of only 6-8 weeks

Learn more in the Invitae Boosted Exome clinician flyer and patient guide.


 
Invitae Boosted Exome Team

Robert Nussbaum
M.D., CMO
Chief Medical Officer
Harvard Medical School M.D.

Dr. Nussbaum is a world-renowned pioneer in genetics who co-discovered the first inherited form of Parkinson’s disease. Before Invitae, he served as Chief of the Genomic Medicine Division in the UCSF Department of Medicine. He is a past president of the ASHG and a member of the National Academy of Medicine.
Swaroop Aradhya
Ph.D., FACMG
Director of Medical Affairs
Baylor College of Medicine Ph.D.

Dr. Aradhya is a molecular geneticist and cytogeneticist who has helped shape professional practices and technology applications in clinical genetic testing. Before Invitae, he was Director of Neurogenetics and Clinical Microarray Services at GeneDx. He has helped identify and characterize various genetic disorders and participated in the Human Genome Project.
Tina Hambuch
Ph.D., FACMG
Medical Director, Pediatrics
UC Berkeley Ph.D.

Dr. Hambuch is board-certified in clinical molecular genetics, with a focus on pediatrics. Prior to Invitae, she led the launch of the first CLIA-certified and CAP-accredited laboratory offering clinical genome sequencing at Illumina. She has co-authored over 20 publications on clinical applications of exome and genome sequencing, and served on several national working groups for clinical exome and genome applications.
Kristin McDonald Gibson, Ph.D. Assistant Medical Director, Pediatrics
Duke University Ph.D.

Dr. McDonald Gibson is board-certified in clinical molecular genetics, with experience launching exome tests. Prior to Invitae, she helped develop The Children’s Hospital of Philadelphia’s clinical exome, as well as an analysis pipeline for exome sequencing while at Duke. She also served as a member of a neonatal genomics exome sequencing group at Duke.
Eden Haverfield
Ph.D., FACMG
Medical Director, Adult Genetics
University of Oxford, DPhil (Ph.D.)

Dr. Haverfield is a clinical molecular geneticist with broad expertise in diagnostic next- generation sequencing and pharmacogenomics. Before joining Invitae, Dr. Haverfield held the positions of director of whole exome sequencing at GeneDx and assistant director of the genetics services laboratory at the University of Chicago.
Britt Johnson
Ph.D., FACMG
Medical director, Metabolic and immunogenetics
University of Wisconsin-Madison Ph.D.

Dr. Johnson is board-certified in clinical molecular genetics and clinical biochemical genetics by the American Board of Medical Genetics and Genomics. Prior to joining Invitae, Dr. Johnson was the assistant lab director of the Clinical Biochemical Genetics Diagnostic Laboratory at the University of Miami, where she was instrumental in establishing their high-throughput enzyme testing for lysosomal storage disorders in dried blood spots. She also played an active role in the molecular diagnoses of patients with lysosomal storage disorders in the university's Clinical Molecular Genetics Diagnostic Laboratory.
Tom Winder
Ph.D., FACMG
Clinical Molecular Geneticist
Medical Director, Neurology

Iowa State University

Dr. Winder has been involved with genetic diagnosis of neuromuscular disorders for over 15 years. His efforts have led to the availability of affordable tests for inherited muscle and nerve disorders, many of which had previously been unavailable in North America. Dr. Winder completed his medical genetics training in 2002 at the University of Iowa and is certified by the American Board of Medical Genetics and Genomics in clinical molecular genetics. Before joining Invitae, Dr. Winder held the positions of director of neuromuscular disorders at PreventionGenetics and assistant professor in the department of pathology at the University of Iowa.
Karen Ouyang
Ph.D., FACMG
Clinical Molecular Geneticist and Cytogeneticist
Medical Director, Oncology

University of Chicago

Dr. Ouyang is a clinical molecular geneticist and cytogeneticist. Before joining Invitae, Dr. Ouyang was Assistant Director of the Cytogenetics Laboratory in the Division of Diagnostic Genomics and Assistant Professor of Clinical Medical and Molecular Genetics at Indiana University. There, she led the development and launch of high resolution SNP chromosomal microarray analysis for clinical testing. Dr. Ouyang received her Ph.D. in Genetics from the University of Chicago with an interest in the molecular mechanisms that underlie cancer susceptibility. She studied the function of the Bloom’s syndrome protein, BLM, in maintaining genomic integrity. Dr. Ouyang subsequently completed board-accredited clinical cytogenetics training at the University of Chicago and molecular genetics training at Indiana University with a focus on characterizing genomic aberrations of hematologic malignancies and solid tumors.
Ed Esplin M.D., Ph.D.
FACMG, FACP
Clinical Geneticist
University of Texas Southwestern

Dr. Esplin is board-certified in clinical genetics and internal medicine and holds a Ph.D. in Genetics and Development from the University of Texas Southwestern. Dr. Esplin completed his clinical fellowship training in medical genetics at Stanford University and postdoctoral training with Mike Snyder in the Department of Genetics. Prior to joining Invitae, he practiced clinical genetics at Kaiser Permanente’s San Francisco Medical Center. He has led international collaborations studying rare pediatric genetic conditions and published research on genetic diseases ranging from congenital malformations and developmental delay to hereditary cancer predisposition.
Brandon Bunker
Ph.D.
Clinical Genomics Scientist
University of California, Berkeley Ph.D.

Dr. Bunker joined Invitae in 2015 as a clinical genomics scientist focusing on variant interpretation and gene curation. Prior to coming to Invitae, Brandon was a postdoctoral fellow at Children's Hospital Oakland Research Institute. He earned his doctorate in Molecular and Cell Biology from University of California, Berkeley, where he established a laboratory pipeline for next-generation sequencing technology.
Keith Nykamp
Ph.D.
Clinical Genomics Scientist
University of Florida Ph.D.

Dr. Nykamp has been studying the influence of genetic variation on phenotype in academic and diagnostic settings for more than 15 years. He’s been with Invitae since 2013 and leads the effort to establish and maintain a reliable evidence-based system for variant classification. Before joining Invitae, Dr. Nykamp worked as a molecular geneticist and director of next-generation sequencing at Prevention Genetics.
Jackie Tahiliani
M.S., CGC
Board Certified Genetic Counselor
Howard University, M.S.

Jackie is board-certified by the American Board of Genetic Counseling and has more than five years of experience as a laboratory genetic counselor. Prior to joining Invitae, Jackie was a laboratory genetic counselor at GeneDx specializing in cardiovascular genetic testing and diagnostic whole exome sequencing.
Amirah Khouzam
M.A., M.S., CGC
Board Certified Genetic Counselor
Stanford University, M.S.

Amirah is board certified by the American Board of Genetic Counseling. Prior to joining Invitae, she served as a senior genetic counselor at the Illumina Clinical Services Laboratory, where she specialized in clinical whole genome sequencing for both undiagnosed disease cases and healthy adults. She also managed a team of genetic counselors and scientists focused on variant curation.
Amy Fuller
M.S., CGC
Board Certified Genetic Counselor
University of South Carolina, M.S.

Amy is board-certified by the American Board of Genetic Counseling and has more than eight years of experience as a clinical and laboratory genetic counselor. Before joining Invitae, Amy was a laboratory genetic counselor at GeneDx and a pediatric genetic counselor at Children's National Medical Center in Washington, D.C. At GeneDx, Amy specialized in molecular cytogenetic testing and diagnostic exome sequencing.

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