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Beaumont Laboratory

Molecular Pathology & Genomic Medicine

We have five accredited molecular laboratories utilizing state-of-the-art molecular genetic approaches to evaluate patients.

We are among the first Molecular Pathology laboratories, opened in 1991, along with one of the first Cytogenomic laboratories. Currently, we have an extensive menu of molecular diagnostics tests for many clinical specialties. Building strong partnerships between our anatomic and clinical laboratories fosters cutting-edge and clinically relevant molecular test development.

Beaumont Laboratory Molecular Tests have been designed to assist in:

  • genetic risk factors for medical disorders
  • diagnosis of infectious disease
  • DNA testing for both congenital and inherited cancer syndromes
  • molecular cytogenetic analysis for prenatal aneuploidy detection
  • individualized drug therapies based on pharmacogenomics testing
  • cross-match testing aiding in determining organ recipient donor compatibility
  • genome-wide analysis of DNA copy number changes for hematolymphoid disorders
  • detection of chromosome abnormalities
  • identification of inherited disorders.

Below is sampling of some of our specialties and tests available.

Click here for the Clinical Cytogenomics Laboratory Overview brochure.

Conventional Chromosome Analysis 

Conventional Chromosome Analysis identifies structural or numerical chromosome abnormalities characteristic of a variety of malignancies. Identification of these lesions provides important diagnostic and prognostic information.

Conventional Chromosome Analysis is performed on multiple specimen types including:

SNP Array Molecular Karyotyping

SNP Array Molecular Karyotyping can identify clinically significant genomic balance along with copy number neutral loss of heterozygosity (uniparental disomy). Identification of these lesions can provide important diagnostic and prognostic information for:

  • Acute Lymphoblastic Leukemia
  • Acute Myeloid Leukemia
  • Chronic Lymphocytic Leukemia
  • Myelodysplastic Syndrome/Myeloproliferative Neoplasm
  • Neuroblastoma
  • Plasma Cell Myeloma
  • Renal Cell Carcinoma.

Click here for the Constitutional SNP Array Karyotyping Data Sheet.
Click here for the Oncology SNP Array Karyotyping Data Sheet.
Click here for the Prenatal SNP Array Karyotyping Data Sheet.

Molecular Cytogenetic (FISH) Analysis 

Molecular Cytogenetic FISH Analysis is performed on all oncology tissue types including bone marrow, peripheral blood, lymph node, tumor biopsy specimens, and paraffin tissue to identify characteristic chromosome abnormalities important for confirmation of diagnosis, disease classification, staging, prognosis, determining appropriate therapy, and identifying remission or relapse. Applications of FISH Analysis in oncology include:

Disease-specific FISH panels and single FISH assays for:

Solid Tumors:

  • ALK Gene Rearrangement in Non-Small Cell Lung Carcinoma
  • Alveolar Rhabdomyosarcoma
  • Desmoplastic Small Round Cell Tumor
  • Ewing’s Sarcoma
  • Myxoid Liposarcoma
  • Synovial Sarcoma
  • TFE3-Renal Cell Carcinoma

HLA Class I Typing for Disease Association

  • A*29 - Birdshot chorioretinopathy
  • B*27 - Ankylosing spondylitis, Uveitis
  • B*51 - Behcet's disease

HLA Class II Typing for Disease Association

  • DQB1*02/03(8) - Celiac Disease
  • DQB1*06:02 - Narcolepsy

HLA Screening for Drug Hypersensitivity


Infectious Disesease


Solid Tumor