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CAMD Molecular Diagnostics Laboratory

Founded in 1988, two years after the invention of PCR, our Molecular Diagnostics Laboratory is one of the oldest and largest academic laboratories of its kind in the USA. Our division has been at the forefront of molecular diagnostics in cancer since its inception, pioneering both new technologies and new applications. More recently, we helped discover EGFR mutations in lung cancer and subsequently launched the world's first assays for EGFR mutations in lung cancer, and MYD88 mutations in Waldenström macroglobulinemia. We also contributed to the first publication describing next generation sequencing of a human cancer and built on this by launching the first enterprise-wide cancer genomics testing program.

Our current testing menu is subdivided into solid tumor, liquid tumor, and germline and microbial assays, each overseen by different faculty and performed in different laboratories. Our trainees rotate through each, working alongside our faculty, technologists, clinical scientists, and bioinformaticians. Specific assays that are currently performed in CAMD are as follows:

Solid Tumors:

  • Microsatellite instability
  • MGMT promoter methylation
  • MLH1 promoter methylation
  • EGFR ultrasensitive "liquid biopsy"
  • BRAF ultrasensitive "liquid biopsy"
  • Oncopanel: 447 gene custom capture next generation sequencing

Hematologic malignancies:

  • B- and T-cell clonality
  • BCR::ABL1 p210 fusion transcript quantitation
  • BCR::ABL1 p190 fusion transcript quantitation
  • ABL1 inhibitor resistance mutations
  • PML::RARA fusion transcript
  • JAK2 V617F mutation
  • KIT D816V mutation, ultrasensitive
  • MYD88 L265P mutation, ultrasensitive
  • Rapid Heme Panel: 88 gene custom capture next generation sequencing

Germline testing and Molecular Microbiology:

  • Oncopanel germline: custom capture next generation sequencing for cancer risk
  • HPV, screening for high risk of cervical dysplasia
  • HPV, full genotyping
  • Bacterial identification from 16s sequencing
  • Fungal identification from ITS sequencing

Requisition Forms

Fellowship Information

Information on the Molecular Genetics Fellowships can be found here.

Contact Information

For more information please contact 857-307-1500.

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