Division of Clinical Pathology : Cytogenetics and Molecular Diagnostics Laboratory

Cytogenetics and Molecular Diagnostics Laboratory

Cytogenetics and Molecular Diagnostic Laboratory
The Cytogenetics and Molecular Diagnostic Laboratory provides services including:

  • Genetic Diagnosis for hematological malignancies
    • The lab performs chromosome analysis and fluorescence in situ hybridization (FISH) using over 80 DNA probes with specific panels for diagnosis and follow-up of all types of myeloid and lymphoid neoplasms. The lab also performs mutation deletion for JAK2 gene for diagnosis of myeloproliferative disorders.
  • Genetic testing for diagnosis of soft-tissue tumors
    • The lab provide a comprehensive FISH menu for diagnosis of soft tissue tumors including alveola soft part sarcoma, dermatofibrosarcoma protuberans, Ewing sarcoma/PNET and others involving EWSR1 rearrangement, infantile fibrosarcoma, low-grade fibromyxoid sarcoma, myxoid liposarcoma, renal carcinoma, rhabdomyosarcoma, synovial sarcoma and well differentiated liposarcoma.
  • Genetic testing for targeted cancer treatment
    • The lab performs mutation detection by PCR/sequencing or FISH for ALK, EGFR, KRAS and ROS1 for non-small cell lung cancer; KRAS and BRAF for colon cancer; HER2 for breast cancer; and BRAF for and malignant melanoma thyroid cancers. Testing of these biomarkers has been essential for effective treatment of the common human cancers with appropriate selection of the new therapies.
  • Cytogenomic and cytogenetic testing for developmental disorders.
    • The lab performs cytogenomic studies using a combined CGH (comparative genomic hybridization) and SNP (single nucleotide polymorphism) platform, which detects all gene copy number variations (CNVs), uniparental disomies and consanguinity as the cause of developmental disorders, including congenital malformations and intellectual disabilities such as autistic spectrum disorders. The lab also provides prenatal diagnosis of developmental disorders by conventional karyotyping and microarray analysis.


  • Yao-Shan Fan, Professor of Pathology
  • Casas, Carmen, Lab Supervisor
  • Woodside, Peggy, Sr. Cytogenetics Tech
  • Dancausse, Elio Sr. Cytogenetics Tech
  • Bressan, Sandra Sr. Cytogenetics Tech
  • Machado, Isildinha Sr. Cytogenetics Tech
  • Brinn, Marineide Sr. Cytogenetics Tech
  • Watkins, Melanie, Sr. Cytogenetics Tech
  • Gayol, Luis, Cytogenetics Tech
  • Veguilla, Mercedes, Cytogenetics Tech
  • Peng, Jinghong, Cytogenetics Tech
  • Ouyang, Xiaomei, Cytogenetics Trainee
  • Fabregat, Giselle, Sr. Pt Representative
  • Gay, Jessika, Lab Assistant

Cytogenetics and Molecular Diagnostic Lab
University of Miami
1601 NW 12th Avenue
MCCD, room 7050
Miami, Florida, 33136
Tel: 305-243-6870
Fax: 305-243-3805