Established in 1979, the Johns Hopkins DNA Diagnostic Laboratory is a CLIA and CAP certified; Maryland, New York, and Pennsylvania licensed clinical genetics testing laboratory specializing in rare inherited disorders. Led by renown professor of pediatrics and medical genetics Dr. Garry R. Cutting, the lab offers testing for a range of approximately 50 phenotypes and disorders totaling 3,500 tests annually. Techniques include:
- Exome/Zoom
- Next Generation Sequencing (NGS; sequence and deletion/duplication analysis)
- Sanger sequencing
- PCR/fragment analysis
In addition to its core mission, the Johns Hopkins DNA Diagnostic Laboratory is also proud to serve as the Cystic Fibrosis Foundation’s Mutation Analysis Program (MAP) Laboratory.
The lab's website is intended for the use of health care providers and we are not able to consult directly with patients. Health care providers and patients may find some helpful resources on our Patient and Family Resources page.
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Garry R. Cutting, M.D.Professor, Department of Pediatrics & McKusick-Nathans Institute of Genetic Medicine
Medical Laboratory DirectorDr. Cutting earned his BS in Biology from the University of Connecticut and his MD from the University of Connecticut Medical School. He completed a fellowship in Pediatric Genetics at the Johns Hopkins University School of Medicine. His research is focused on the genetic and non-genetic causes of disease variation in cystic fibrosis (CF) and there are three major active projects in his research laboratory:
- CF Twin and Sibling Study
- Genetic Heterogeneity in CF
- CFTR2 Project
The CF Twin and Sibling Study seeks to identify the major genetic and environmental factors that cause variation in the CF phenotype. Genome-wide linkage and association methods are employed to find loci and genes that modify quantitative traits (lung function, BMI) and qualitative complications (diabetes and meconium ileus) of CF. The Genetic Heterogeneity study is investigating families recruited by the laboratory that have 2 or more individuals where linkage excludes involvement of CFTR. Exome sequencing is being used to discover new genes that create a CF-like phenotype. CFTR2 is a worldwide project involving ~70,000 CF patients to clinical and functionally annotate all mutations in the CFTR gene.
Read more about Dr. Garry R. Cutting
Molly B. Sheridan, Ph.D.Assistant Professor, Department of Pediatrics & McKusick-Nathans Institute of Genetic Medicine
Laboratory DirectorDr. Sheridan earned a BS in Biology from The College of New Jersey and a PhD in Cellular and Molecular Medicine from Johns Hopkins University. She completed a research post-doctoral fellowship in genetics at Children’s Hospital of Philadelphia in 2011. Dr. Sheridan returned to Johns Hopkins University in 2011 to complete a combined Clinical Cytogenetics and Clinical Molecular Genetics fellowship. She joined the McKusick-Nathans Institute of Genetic Medicine faculty in 2015. She is board-certified by the American Board of Medical Genetics and Genomics in Clinical Cytogenetics and Clinical Molecular Genetics.
Sumathi Rachamadugu MSc, MS, CGCGenetic Counselor for DNA Diagnostic Lab at Johns Hopkins Genomics
Sumathi Rachamadugu MSc, MS, CGC earned a master's degree in biomedical genetics from Vellore Institute of Technology in India, followed by a master's degree in genetic counseling from the University of Utah. She has worked as a cytogenetic technologist in India, and has several years of work experience as a clinical genetic counselor in the general genetics and adult cardiovascular clinics. Before joining Johns Hopkins Genomics, Sumathi worked at Intermountain Healthcare where she was team lead for the adult cardiovascular genetic counseling program, and served on various committees influencing genetic counseling, including a population study return of results committee. Sumathi is passionate about genetics education for non-genetics medical providers, learning the art and science of variant classification, and implementing technology to automate and scale the genetic counseling workflow. She is board-certified by the American Board of Genetic Counseling, and is an active member of the National Society of Genetic Counselors.
Sabrina Ingram, BSBilling Coordinator
Sabrina’s role within the lab is to coordinate the billing. She is responsible for making sure the billing process is easy and simple for the referrers requesting testing. She also plays a role in the financial aspects of the JHDDL, such as Budget Reports, Reimbursements and AP/AR. After relocating to Baltimore, Sabrina obtained a degree in Business Administration from Sojourner-Douglass College in Baltimore, Maryland. She has worked for Johns Hopkins University for more than 12 years and enjoys working with clients and the laboratory technical staff.
Christopher O'Donnell, MSQuality Assurance Administrator
Chris leads the the laboratory Quality Assurance program, ensuring compliance with laboratory regulations set forth by CLIA, College of American Pathologists (CAP) and other state agencies. He received a Bachelor of Science in Biological Sciences with a minor in History from Virginia Tech and a Master of Science degree in Biotechnology with a concentration in Regulatory Affairs from Johns Hopkins University.
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- CLIA Certification # 21D0692357 (exp 08/7/2023)
- CAP Accreditation: LAB #1353017 (exp 06/30/2023)
- MD State Permit #557 Non-Expiring
- NY State Permit #4253 (exp 06/30/2023)
- PA State Permit #029028A (exp 08/15/2023)
Proficiency Testing: Participant in CAP Surveys, Inter- and Intra-laboratory comparison challenges.
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Telephone: 410-955-0483
Fax: 410-367-3266Postal Address (not for shipping samples)
Johns Hopkins Genomics - DNA Diagnostic Laboratory
1812 Ashland Ave, Room 200
Baltimore, MD 21205Email
General questions and information: [email protected]
Billing questions and information: [email protected]Other Helpful Numbers at Johns Hopkins
General number for Johns Hopkins Hospital: 410-955-5000
Directors
Garry Cutting, M.D.
Medical DirectorMolly B. Sheridan, Ph.D.
Laboratory DirectorClient Services Staff
Sumathi Rachamadugu M.Sc., M.S., CGC
Genetic Counselor
Email:s[email protected]
General Department Email: [email protected]
Phone: 443-927-3089
Fax: 410-367-3266Sabrina Ingram, B.S.
Billing Coordinator
Email:[email protected]
Billing Department Email: [email protected]
Phone: 443-287-2486
Fax: 410-367-3266Hours of Operation
Monday-Friday 8:00AM to 4:30PM Eastern Time
Closed on weekends and official holidaysHoliday Hours
The lab will be closed on the following holidays:
January 3, 2022 - New Year's Day Observed
January 17, 2022 - Martin Luther King, Jr. Day
May 30, 2022 - Memorial Day
June 20, 2022 - Juneteenth
July 4, 2022 - Independence Day
September 5, 2022 - Labor Day
November 24, 2022 - Thanksgiving Day
November 25, 2022 - Day after ThanksgivingDecember 24, 2022 - Christmas Eve (Observed Monday, December 26, 2022)
December 25, 2022 - Christmas Day (Observed Tuesday, December 27, 2022)December 31, 2022 - New Year's Eve (Observed Friday, December 29, 2022)
January 1, 2023 - New Year's DayWhen the lab is closed, no personnel will be present to answer phone calls or accept deliveries.
The lab is not open on weekends for sample delivery.Please plan your specimen shipments accordingly.