About Us

Overview

Established in 1979, the Johns Hopkins Genomics DNA Diagnostic Laboratory is a CLIA and CAP certified; Maryland, New York, 和宾夕法尼亚州许可的临床遗传学检测实验室,专门研究罕见遗传疾病. Led by renown professor of pediatrics and medical genetics Dr. Garry R. Cutting, 该实验室提供约50种表型和疾病的检测,共计3种,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, 约翰霍普金斯基因组DNA诊断实验室也很自豪地担任 Cystic Fibrosis Foundation’s Mutation Analysis Program (MAP) Laboratory.

实验室的网站是供医疗保健提供者使用的,我们不能直接咨询患者. Health care providers and patients may find some helpful resources on our Patient and Family Resources page.


Lab Information

Contact Us

Phone & Fax

Main: 410-955-0483
Genetic Counselor: 443-927-3089
Billing: 667-306-8282
CFF Mutation Analysis Program: 410-614-2750

Fax: 410-367-3266

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Email

General: [email protected]
Billing: [email protected]

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Location

Postal Address (not for shipping samples):

Johns Hopkins Genomics - DNA Diagnostic Laboratory
1812 Ashland Ave, Suite 200
Baltimore, MD 21205

Schedule

Hours of Operation

Monday-Friday 8:00AM to 4:30PM Eastern Time

Closed on weekends and holidays.

When the lab is closed, 没有人员在场接听电话或接受标本交付. Please plan specimen shipments accordingly.

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Holiday Schedule

JHGDDL follows the Johns Hopkins University holiday calendar, including:

  • New Year's Day
  • Martin Luther King, Jr. Day
  • Memorial Day
  • Juneteenth
  • Independence Day
  • Labor Day
  • Thanksgiving Day
  • Day after Thanksgiving
  • Winter Holiday 2024 (Tuesday, December 24 - Tuesday, December 31)

Helpful Links & Resources

Laboratories in the Division of Molecular Pathology

Molecular Diagnostics Laboratory: DNA and RNA based assays for solid tumors and hematologic malignancies, including telomere length testing.

Cytogenetics/Cytogenomics Laboratory: Cancer, Prenatal, Postnatal, and Core Facility teams offering karyotype analysis, SNP microarray analysis, fluorescence in-situ hybridization (FISH).

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Department of Genetic Medicine Clinics

查找有关专业诊所的信息,安排预约,以及期待什么.

Lab Staff

Garry R. Cutting, M.D.

Medical Laboratory Director, Professor of Genetic Medicine

Dr. Cutting earned his B.S. in Biology from the University of Connecticut and his M.D. from the University of Connecticut Medical School. 他在约翰霍普金斯大学医学院完成了儿科遗传学的研究. 他的研究重点是囊性纤维化(CF)疾病变异的遗传和非遗传原因,他的研究实验室有三个主要的活跃项目:CF双胞胎和兄弟姐妹研究, Genetic Heterogeneity in CF, CFTR2 Project.

CF双胞胎和兄弟姐妹研究旨在确定导致CF表型变异的主要遗传和环境因素. 采用全基因组连锁和关联方法寻找修饰数量性状(肺功能)的位点和基因, BMI) and qualitative complications (diabetes and meconium ileus) of CF. 遗传异质性研究正在调查实验室招募的有2个或更多个体的家庭,这些家庭的连锁关系排除了CFTR的参与. 外显子组测序被用来发现产生cf样表型的新基因. CFTR2 is a worldwide project involving ~70,对CFTR基因的所有突变进行临床和功能上的注释.

Read more about Dr. Cutting

Molly B. Sheridan, Ph.D.

Laboratory Director, Assistant Professor of Genetic Medicine

Dr. Sheridan earned a B.S. in Biology from The College of New Jersey and a Ph.D. in Cellular and Molecular Medicine from Johns Hopkins University. 2011年,她在费城儿童医院(Children’s Hospital of Philadelphia)完成了遗传学博士后研究. Dr. 2011年,谢里丹回到约翰霍普金斯大学,完成了临床细胞遗传学和临床分子遗传学的联合研究. She joined the McKusick-Nathans Institute of Genetic Medicine faculty in 2015. 她是美国医学遗传学和基因组学委员会临床细胞遗传学和临床分子遗传学的董事会认证.

Read more about Dr. Sheridan

Xiao P. Peng, M.D., Ph.D.

Clinical Advisor, Assistant Professor of Genetic Medicine

Xiao Peng, M.D., Ph.D., 现任约翰霍普金斯大学遗传医学系血液与免疫遗传学助理教授兼主任. At Johns Hopkins, Dr. Peng also completed a combined residency in pediatrics and medical genetics, 随后在美国国立卫生研究院T32基金的支持下,担任了一年的遗传学首席住院医师和研究员.

Dr. 彭医生的临床重点是疑似先天性血液和免疫缺陷的患者. She is co-author of multiple book chapters, several key reviews and scientific articles of the condition, and is a founding member of the Center for Immune-Related Disorders, 建立了一个多学科的提供者联盟,以帮助建立更好的资源,用于诊断和治疗疑似免疫相关疾病的患者.

Dr. Peng graduated in 2005 with a B.S. in chemistry with honors from Caltech and then worked as a research assistant, sponsored by the Howard Hughes Medical Institute, in the Cancer Genomics program at the Broad Institute of Harvard/MIT. During this time, 她参与了许多已发表的基础科学和转化医学项目. At the Broad Institute, Dr. 彭还在基因组学和其他尖端技术方面获得了丰富的经验.

She graduated with an M.D., Ph.D. from the Weill Cornell/Rockefeller/Memorial Sloan-Kettering Tri-Institutional M.D.-Ph.D. Program in 2017, 在那里,她继续通过研究DNA复制/修复之间的界面来追求她对基础生物过程的兴趣, transcriptional regulation and post-translational protein modification pathways. 她还发表了免疫学和发育基因调控方面的其他研究.

Since being at Johns Hopkins, 她将自己的基础科学背景应用于人类疾病诊断和治疗的创新和机械方法. 她的教学和研究兴趣与她对免疫和造血障碍患者护理的热情协同融合. She continues to teach courses on immunity, genetics/genomics and their interface to trainees at many levels.

Read more about Dr. Peng

Sumathi Rachamadugu, M.Sc., M.S., C.G.C.

Genetic Counselor

Sumathi Rachamadugu M.Sc., M.S., C.G.C. 获得印度Vellore理工学院生物医学遗传学硕士学位, followed by a master's degree in genetic counseling from the University of Utah. 她曾在印度担任细胞遗传学技术专家,并在普通遗传学和成人心血管诊所担任临床遗传咨询师几年的工作经验. Before joining Johns Hopkins Genomics, Sumathi曾在Intermountain Healthcare工作,在那里她是成人心血管遗传咨询项目的团队领导, and served on various committees influencing genetic counseling, including a population study return of results committee.

苏马蒂热衷于为非遗传学医疗提供者提供遗传学教育, learning the art and science of variant classification, 实施技术,使遗传咨询工作流程自动化和规模化. 她是美国遗传咨询委员会的董事会认证,是国家遗传咨询协会的活跃成员.

Sabrina Ingram, B.S.

Billing Coordinator

Sabrina’s role within the lab is to coordinate the billing. 她负责确保对要求测试的推荐人来说,计费过程简单易行. She also plays a role in the financial aspects of the JHGDDL, such as Budget Reports, Reimbursements and AP/AR. After relocating to Baltimore, Sabrina获得了巴尔的摩Sojourner-Douglass College的工商管理学位, Maryland. 她在约翰霍普金斯大学工作了12年多,喜欢与客户和实验室技术人员一起工作.


Technical Staff

Miller Barksdale, B.S., Molecular Diagnostics Technologist

Krista D'Adamo, B.S., Lead Molecular Diagnostics Technologist

Emily Ferg, B.S., Clinical Laboratory Specialist

Lisa Fleet, B.S., M.S., Molecular Diagnostics Technologist

Krystine Foster, B.S., Molecular Diagnostics Technologist

Hannah Shultz-Lutwyche, B.S., Genetic Counselor Assistant

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Certifications & Permits

能力测试:参与CAP调查,实验室间和实验室内比较挑战.