Beaumont Genetics Laboratories

The Cytogenetics Laboratory at William Beaumont Hospital provides high-quality chromosome analysis utilizing state-of-the-art cytogenetic techniques. In addition to routine studies, the laboratory performs molecular cytogenetic analysis utilizing the technique known as FISH (fluorescence in situ hybridization). FISH is useful to detect submicroscopic chromosome rearrangements such as microdeletions which can lead to genetic disorders including DiGeorge Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Smith-Magenis Syndrome, and Williams Syndrome. FISH is also useful in hematological disorders for detection of and monitoring for clinically significant chromosome rearrangements including the 9;22 translocation in chronic myeloid leukemia, the 15;17 translocation in acute promyelocytic leukemia, and the 12;21 translocation in childhood acute lymphocytic leukemia. The laboratory also offers chromosome microarray analysis (CMA) utilizing a 135K array. CMA is a state-of-the art highly sensitive molecular cytogenetic assay for detecting small chromosomal imbalance in both the prenatal and postnatal setting. The test is currently offered as a front-line study in children with developmental delay/mental retardation, multiple congenital anomalies, seizures, and autism/autism spectrum disorder.

The Medical Director of the Beaumont Cytogenetics Laboratory is board certified in Clinical Cytogenetics and Clinical Molecular Genetics by the American Board of Medical Genetics. Genetic counseling services are also provided by certified genetic counselors.

Mark A. Micale, Ph.D., F.A.C.M.G.
Medical Director

The Beaumont Cytogenetics Laboratory performs conventional analysis of:

  • Amniotic Fluid
  • Chorionic Villus Sampling
  • Peripheral Blood
  • Fetal Blood (PUBS)
  • Bone Marrow
  • Solid Tumors
  • Tissue (Abortus, Miscarraige, Skin)

Molecular Cytogenetic (FISH) testing for:

  • Chromosome enumeration
  • SRY gene testing
  • Chromosome microdeletion and microduplication syndromes
  • Neoplastic Disorders
    - Myelodysplasia and myeloproliferative disorders including MDS FISH panel
    - Leukemia and lymphoma translocations
    - Multiple myeloma FISH panel
    - Chronic lymphocytic leukemia FISH panel
    - Acute myeloid leukemia FISH Panel
    - Pediatric lymphoblastic leukemia FISH panel
    - Prenatal aneuploidy detection
    - Recurrent bladder cancer detection (UroVysion)*
    - Her-2/neu amplification*

    * Performed in the Beaumont Advanced Diagnostics Laboratory

Chromosome Microarray Analysis (CMA) utilizes a 135K array for high-resolution whole genome cytogenomic analysis for:

  • Developmental delay/mental retardation
  • Multiple congenital anomalies
  • Seizures
  • Autism/autism spectrum disorder