Molecular Pathology

Laboratories in the Division

The Laboratories in the Division of Molecular Pathology offer state-of-the-art clinical molecular testing for leukemia, lymphoma, and solid tumors. Founded in 1986, the laboratories have more than two decades of experience in the field of molecular diagnostics of cancer.

The Molecular Diagnostic Lab offers more than 40 DNA or RNA based assays in a CLIA setting. Currently, the lab performs over 6,000 tests a year, mostly for cancer patients. The test number is growing steadily. DNA and RNA are extracted from a variety of specimen types, including peripheral blood, bone marrow, fresh tissue and formalin-fixed paraffin-embedded tissue. Our tests range from simple, routine PCR amplifications to complex tests translated from cutting-edge research findings to clinical utility. In February 2013, the lab began to provide molecular diagnosis by using next generation sequencing platform. The goal is to offer whole exome sequencing and/or whole genome sequencing for cancer patients in the future.

The Cytogenetics Lab offers karyotype analysis and SNP-microarray analysis to detect balanced, unbalanced, and copy number neutral chromosome abnormalities at the whole genome level. The lab also performs fluorescence in-situ hybridization (FISH) analysis to detect targeted chromosome abnormalities. The results from these studies play important roles in cytogenetic diagnosis, prognosis, and guide treatment of specific types of hematologic malignancies and solid tumors.

Division Administrative Staff:


Molecular Diagnostics Laboratory

Molecular Diagnostic Laboratory
  • Directors: Drs. Ming-Tseh Lin, James Eshleman, and Christopher Gocke
    Related website: Molecular Pathology Faculty
  • Manager: Katie Beierl (email: kbeierl1@jhmi.edu)
  • Clinical Specialist for Assay Development: Lisa Haley
  • Acting Technologist Lead: Emily Adams
  • Bioinformatics Specialist: Aparna Pallavajjalla
  • Technologists: Ruth Shane, Kirstin Smith, Derek Anderson, Tierra Brown, Chrisley Pickens, and Suping Chen

Laboratory tests/services include: Bone marrow engraftment, TCR rearrangement, IgH rearrangement, NPM1 mutation, CEBPA mutation, quantitative assay for BCR/ABL rearrangement, a variety of translocation assays for AML, ALL and soft tissue tumors (synovial sarcoma, Ewing sarcoma and alveolar rhabdomyosarcoma), Microsatellite instability, SNP-array for 1p/19q deletion, and a variety of mutation detection assays for solid tumors (lung cancer, colorectal cancer, melanoma, gastrointestinal stromal tumor, papillary thyroid cancer, etc) using next generation sequencing, pyrosequencing or Sanger sequencing.

Cytogenetics Laboratory

Cancer Cytogenetics Team

Cancer Cytogenetics Team

  • Technologist Lead: Laura Morsberger
  • Technologists: Aqeel Ahmad, Candice Ament, Miriam Hays, Ellenmai Korkoya, Kerry Morris, Azin Nozari, Alison Shane, Kati Valdrini, Rebecca Parish

Laboratory tests/services include: Cancer karyotype, various FISH and FISH panel tests for myeloid and lymphoid hematologic malignancies (eg. AML, CML, B and T cell-ALL, CLL, MDS, etc.), various FISH tests on paraffin-embedded tumor tissue specimens (eg. breast cancer, lung cancer, lymphoma, etc.), and SNP-microarray.

Prenatal Cytogenetics Team

Prenatal Cytogenetics Team
  • Technologist Lead: Christl Wigner (email: cwigner1@jhmi.edu)
  • Technologists: Kyle Gray and Brandy LePage
  • Laboratory tests/services include: Chromosome analysis, AneuVysion FISH, DiGeorge FISH, and DNA extraction on amniotic fluid, chorionic villi, and products of conception specimens.

Cytogenetics Core Facility

Cytogenetics Core
  • Director: Dr. Yi Ning
  • Manager: Laura Morsberger (email: lmorsbe2@jhmi.edu)
  • Sr. Research Specialist: Dr. Raluca Yonescu

Cytogenetics core facility is a shared resource of the Sidney Kimmel Comprehensive Cancer Center. The core facility provides customized cytogenetics services for cancer researchers and other investigators in the institution. For more information please visit the link below.

https://my.ilabsolutions.com/service_center/show_external/3115/cytogenetics-core-facility