Illumina has been providing high-quality DNA analysis services, including next-generation sequencing (NGS), to the research community since 2001. In 2009, we established a CLIA-certified, CAP-accredited clinical laboratory, Illumina Clinical Services Laboratory, for the purpose of offering human whole-genome sequencing services to physicians and genetic counselors. This laboratory is staffed with certified Clinical Laboratory Scientists who have training and experience with Illumina NGS technologies. In fact, the Illumina Clinical Services Laboratory was the first to generate a personal genome sequence in a clinical laboratory setting.
CLIA, or Clinical Laboratory Improvement Amendments, is a set of regulations administered by the Centers for Medicare & Medicaid Services (CMS) for laboratory testing of human samples. The objective of the CLIA program is to ensure quality laboratory testing through laboratory certification, personnel standards, proficiency programs, and inspections. In total, CLIA covers approximately 225,000 laboratory entities. To read more on CLIA, visit the Centers for Medicare and Medicaid Services at www.cms.gov.
Illumina CLIA certification number: 05D1092911
CAP, or College of American Pathologists, is an organization of board-certified pathologists that serves patients, pathologists, and the public by fostering and advocating excellence in the practice of pathology and laboratory medicine worldwide. The accreditation program helps improve patient safety by advancing the quality of laboratory services through standard settings and inspections. To read more on the CAP accreditation process, visit www.cap.org.
Illumina CAP accreditation number: 7217613
The Illumina Clinical Services Laboratory is staffed with a team of board-certified medical geneticists, board-certified genetic counselors, PhD level bioinformaticians, and NCA-certified laboratory technologists. All staff is trained, maintains certification in their specialties, and participates in ongoing medical education to maintain licensure. The team has produced over 15 peer-reviewed publications addressing genome sequencing clinical implementation and best practices, including several national guidelines for clinical genome testing. They are active members of the American College of Medical Genetics, the National Society for Genetic Counseling, the Association of Molecular Pathologists, and the American Society of Clinical Pathology.
All Illumina Clinical Services Laboratory team members have at least a Bachelor's degree in a field of biological science, with the majority specifically in cell and molecular biology. All are NCA-certified in molecular genetics with active California licenses as Clinical Molecular Genetic Scientists and California-approved Medical Technologists (ASCP). Laboratory staff are required to take continuing education units to maintain licensure. Additionally, the majority of the team has at least two years of experience working in a clinical laboratory setting, and over five years of experience in the bioscience field.
Philip D. Cotter, Ph.D., FACMG, FFsc(RCPA)
Clinical Laboratory Director
Philip Cotter earned his doctorate in Biomedical Sciences from the Department of Human Genetics at the Mount Sinai School of Medicine in New York. He is Board Certified by the American Board of Medical Genetics in both Clinical Cytogenetics and Clinical Molecular Genetics. Dr. Cotter is a Fellow of the American College of Medical Genetics, Fellow of the Faculty of Science Royal College of Pathologists of Australasia, and an Associate Clinical Professor of Pediatrics at the University of California San Francisco. In addition, Dr. Cotter currently holds several positions, including a Principal of ResearchDx LLC, a Contract Diagnostics Organization, Contract Manufacturing, Clinical Laboratory and Consulting Company specializing in Companion Diagnostics; Laboratory Director of Pacific Diagnostics Clinical Laboratory, Irvine, CA; and Clinical Laboratory Director of the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory (ICSL), San Diego, CA. Dr. Cotter's experience includes Vice President and Laboratory Director at Biocept Inc., San Diego, CA; Laboratory Director at Combimatrix Molecular Diagnostics in Irvine, CA; Director of Molecular Cytogenetics at the Mount Sinai School of Medicine New York,NY; Director of Cytogenetics and Molecular Genetics at Children's Hospital and Research Center Oakland, CA; and Director of Advanced Molecular Diagnostics at US Labs, Irvine, CA. Dr. Cotter has published extensively in the areas of cytogenetics, molecular genetics, and prenatal diagnosis. Over the past eighteen years, he has been involved in setting up and running genetic testing clinical laboratories as well as developing new assays for use in clinical laboratories.
Tina Hambuch, Ph.D., FACMG
Director, Clinical Services
Tina Hambuch earned her Bachelor's degree from UC Riverside, her doctorate from UC Berkeley, and is Board Certified by the American Board of Medical Genetics in Clinical Molecular Genetics. She trained in medical genetics at UCLA, was a post-doctoral fellow at the Centers for Disease Control and Prevention, and an assistant professor at the University of Munich. Dr. Hambuch joined Illumina in 2008, where she combined her experience in genetics, genomics, and clinical diagnostics to contribute to the development of the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory (ICSL). In 2010, she launched a California-certified Clinical Genetic Molecular Biologist Scientist training program in which she served as the Education Coordinator and Director. Dr. Hambuch is currently active in the development and validation of genetic testing, as well as clinical tools for physician support and education. Dr. Hambuch is a member of the American Society of Human Genetics and serves on clinical genomics working groups for the Centers for Disease Control, Association for Molecular Pathology, Clinical Laboratory Standards Institute.
Shimul Chowdhury, Ph.D., DABMG, CGMBS
Shimul Chowdhury earned his Bachelor's degree in Biology from the University of Minnesota-Twin Cities, and his doctorate from the University of Arkansas for Medical Sciences in Little Rock, Arkansas. His doctoral work focused on using Illumina microarray technology to identify maternal genetic and epigenetic variation associated with congenital heart defects. Dr. Chowdhury conducted his American Board of Medical Genetics (ABMG)-accredited clinical molecular genetics fellowship at Providence Sacred Heart Medical Center in Spokane, Washington. After completion of his fellowship, he was employed at Quest Diagnostics and served as a laboratory director in the molecular genetics department. Dr. Chowdhury joined the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory (ICSL) in 2014, where he contributes to clinical interpretation of whole-genome sequencing (WGS) data, and the continued development and improvement of WGS in the molecular diagnostic testing arena. Dr. Chowdhury is a Diplomate of the American Board of Medical Genetics and a member of Association for Molecular Pathology and the American Society of Human Genetics.
April Livengood, Ph.D.
April Livengood earned her Bachelor’s degree at Western Carolina University, and her doctorate in Molecular, Cellular, and Developmental Biology from the University of Colorado at Boulder. Dr. Livengood conducted postdoctoral research at the University of Colorado at Boulder/Howard Hughes Medical Institute, and subsequently at the UCSD Moores NCI-designated Cancer Center. Dr. Livengood has served as a project leader and manager at EMD Millipore (an affiliate of Merck KGaA) overseeing the development and launch of assays for biomedical research, and as a manager at Pathway Genomics contributing to the development and support of next-generation sequencing (NGS)-based hereditary cancer genetic tests. Dr. Livengood joined the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory (ICSL) in 2014 where she contributes to the clinical interpretation of whole-genome sequencing (WGS) data and provides support for genomic sequencing projects. Dr. Livengood is a member of the American Society of Human Genetics and the American Association for Cancer Research.
Amirah Khouzam, M.A., M.S., C.G.C.
Clinical Genomics Specialist
Amirah Khouzam earned her Bachelor of Science degree from the University of California, Davis in Neurobiology and Psychology and her Master’s degree in Human Genetics and Genetic Counseling from Stanford University. She has previously worked in a neurocognitive lab investigating functional brain patterns of children on the autism spectrum. During her graduate training, she interned in the Medical Genetics department at Cedars Sinai Medical Center, providing counseling in several clinics, including a skeletal dysplasia clinic and a connective tissue clinic. Ms. Khouzam joined Illumina in July 2013 as a Clinical Genomics Specialist, where she assists with genetic variant interpretation and provides support for genomic sequencing projects within the clinical lab.
Suneer Jain, M.S., CGMBS, MB(ASCP)CM
Clinical Laboratory Manager
Suneer Jain earned his Masters in Anatomy and Cell Biology from the Department of Anatomy and Cell Biology at the University of Iowa. He is a certified lab professional by the American Society for Clinical Pathology (ASCP) and the California Dept. of Public Health in Molecular Genetics. Mr. Jain joined Illumina in 2009 as a part of the team to establish the Illumina Clinical Services Laboratory and subsequently sequence the first whole human genome in a CLIA-certified, CAP-accredited laboratory. Early in his career, Mr. Jain gained assay development experience over immunological and molecular infectious disease assays while working for a start-up in Malibu, CA. In 2007 he focused his career towards clinical patient testing while working for Labcorp in the molecular oncology department laboratory located in Irvine, CA. Over the past ten years, he has been involved in setting up and running clinical molecular testing laboratories as well as developing and validating new assays for use in clinical laboratories. Mr. Jain is a member of ASCP and the California Association for Medical Laboratory Technology.
Subramanian Shankar Ajay, Ph.D.
Senior Bioinformatics Scientist
Shankar Ajay earned his Bachelor’s degree in Information Systems from the Birla Institute of Technology and Science, Pilani, India. He received his doctoral degree in Bioinformatics at the University of Michigan, Ann Arbor, where he focused on effective probe design for microRNA detection and approaches for microRNA target prediction. He went on to complete his post-doctoral training at the National Human Genome Research Institute, with an emphasis on improving analytical methods for whole genome sequencing (WGS) data. Dr. Ajay joined Illumina in 2011, where he manages the WGS clinical data analysis pipelines and contributes to the continued development and validation of analytical methods in the Illumina Clinical Services Laboratory.
Vani Rajan, M.S.
Vani Rajan earned her Bachelor's degree in Electrical/Computer Engineering and Biomedical Engineering from Carnegie Mellon University and her Master's degree in Bioinformatics from Georgia Tech University. She has previously worked in a CLIA-certified whole exome lab as a NGS platform lead for the Illumina HiSeq2000. This led to being responsible for system data management, as well as quality control of any sequenced samples. During her graduate training, she interned at Dow AgroSciences developing a high throughput prokaryotic genome annotation pipeline. In June 2013, Ms.Rajan joined the Illumina Clinical Lab as a Bioinformatics Scientist, where she assists with the management and analysis for genomic sequencing projects within the clinical lab.