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Testing Services

When our experts order genetic testing, our facilities are close at hand. On the Johns Hopkins East Baltimore Medical Campus is Johns Hopkins Genomics, a joint effort of the McKusick-Nathans Institute of Genetic Medicine and the Department of Pathology.

JH Genomics

With approximately 200 staff, including clinical molecular geneticists, bioinformaticists, statistical geneticists, clinical geneticists and molecular pathologists, Johns Hopkins Genomics incorporates research and clinical services, including:

  • Center for Inherited Disease Research (CIDR)
  • Genetic Resources Core Facility (GRCF)
  • DNA Diagnostic Laboratory
  • Molecular Pathology Laboratory
  • Clinical Genome Laboratory

Services include:

  • genotyping and sequencing for basic and clinical research projects
  • clinical exome and custom targeted sequencing for Mendelian variants and somatic mutations
  • phenotype-specific multigene panels for inherited disorders
  • oncologic gene panels for detection of somatic mutations in cancer
  • clinical cytogenetics services
  • next-generation sequencing applications including RNA-seq, ChIP-seq and microbiome sequencing
  • sample processing, including live cell immortalization and a CAP-certified LN2 biorepository
  • DNA isolation
  • methylation testing
  • cell line authentication
  • mycoplasma detection
  • custom DNA assay design
  • single cell genomics
  • digital PCR and qPCR assays