Molecular Diagnostics

At the Center for Genomic Medicine, we perform clinical tests for a variety of genetic conditions and cancer syndromes. These include analysis performed in:

the Diagnostic Unit

  • Hereditary breast and/or ovarian cancer (HBOC)
  • Hereditary non-polyposis colorectal cancer (HNPCC- Lynch syndrome)
  • Hereditary endocrine diseases

the Microarray Facility 

  • Classification of unknown primary tumors
  • Breast cancer sub classification
  • Neuroblastoma copy number analysis
  • Phase 1: Whole genome molecular profiling for precision medicine including transcriptome and CNV analysis
  • Molecular profiling of relapse solid tumors in children cancers
  • Profiling of referred complex cases

the NGS Facility

  • Phase 1: Whole genome molecular profiling for precision medicine including WES and RNA-seq
  • WES of relapse solid tumors in children cancers
  • Targeted sequencing of cell free DNA from breast cancer patients
  • Targeted sequencing of gene panels of inhereted disease
  • TRIO analyses for rare diseases
  • WES of patients with bleeding disorders
  • HPV Genotyping
  • PGS (Preimplantation Genetic Screeening)