Invitae
Boosted Exome

Expertise and quality you can trust

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The Invitae Boosted Exome provides a clear evidence-based analysis of an individual’s exome through systematic evaluation of genetic variants informed by the patient’s clinical presentation and history. Invitae’s medical team has extensive experience performing clinical exome and genome sequencing.

We use highly advanced next-generation sequencing (NGS) capture technology with boosted coverage of medically relevant genes and custom-built bioinformatics solutions to support variant analysis, followed by expert interpretation by our team of board-certified geneticists.

From that deep analysis, we develop an easy-to-digest report with clear positive and negative results that summarizes the most salient information.

The Invitae Boosted Exome includes:

  • Advanced NGS capture technology with customized and improved coverage of medically relevant genes
  • 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)
  • Phenotype selection tool, an Invitae-developed online interface that supports a personalized analysis so you can collaborate in selecting the genes to analyze
  • Gene coverage data, provided to ordering clinicians, ensuring full transparency prior to placing an order
  • Rigorous custom-developed bioinformatics to ensure that clinically important variants are reliably identified
  • Average turnaround time of 6-8 weeks

Learn more in the Invitae Boosted Exome clinician flyer.

Questions? Our team is ready to assist you! Please contact us at 800-436-3037 or clientservices@invitae.com.


 
Invitae Boosted Exome Team

Robert Nussbaum
MD, CMO
Chief Medical Officer
Harvard Medical School MD

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
PhD, FACMG
Director of Medical Affairs
Baylor College of Medicine PhD

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
PhD, FACMG
Medical Director, Pediatrics
UC Berkeley PhD

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, PhD, FACMG Assistant Medical Director, Pediatrics
Duke University PhD

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
PhD, FACMG
Medical Director, Adult Genetics
University of Oxford, DPhil (PhD)

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
PhD, FACMG
Medical director, Metabolic and immunogenetics
University of Wisconsin-Madison PhD

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
PhD, 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.
Jeanne Morin-Leisk
PhD
Clinical Genomics Scientist
Carnegie Mellon University PhD

Dr. Morin-Leisk joined Invitae in 2017 as a clinical genomics scientist focusing on exome variant interpretation and gene curation for rare diseases. She did a postdoctoral fellowship at the NIH focusing on structural characterization of membrane proteins in the lab of Dr. Jenny Hinshaw. Prior to coming to Invitae, Dr. Morin-Leisk worked in a diagnostic lab to improve clinical sensitivity and specificity on a cancer and rare diseases molecular genetics testing pipeline.
Brandon Bunker
PhD
Clinical Genomics Scientist
University of California, Berkeley PhD

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
PhD
Clinical Genomics Scientist
University of Florida PhD

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
MS, CGC
Board Certified Genetic Counselor
Howard University, MS

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
MA, MS, CGC
Board Certified Genetic Counselor
Stanford University, MS

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.

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