Genetics Core

The Human Genetics Core Laboratory is available to support genetic-based clinical research in the GCRC. The availability of this laboratory interdigitates with expanding emphasis placed on human genetics at this University. The Genetics Core laboratory will assist investigators in the design and implementation of molecular diagnostics focusing on the study of genetic etiologies of human diseases. The laboratory builds on a pre-existing Molecular Diagnostics Laboratory in the Department of Pathology at University Medical Center/Stony Brook, but has been specifically designed to expand and offer more services for research investigation. The current laboratory is a fully-accredited New York State laboratory offering genetic testing for well-characterized human genetic disorders. As such, quality assurance, sample handling and processing, patient confidentiality, and compliance issues have been established. The presence of this laboratory will greatly facilitate the expansion of services designed for research investigation into human genetic diseases. As such the primary services of the laboratory are as follows:

• Isolation and storage of DNA from patient peripheral blood leukocytes.
• Storage and tracking of patient material in conjunction with the Bioinformatics and Data Management staff.
• Assistance with techniques of genetic mutation identification.
• EBV transformation of lymphocytes for rare human disorders.
• DNA sequence analysis.
• Development of NY-state approved, molecular diagnostic testing for genetic defects with broad clinical relevance (on a case-by-case basis).

Currently available Laboratory Tests:

Microbiology

• Hepatitis C Viral Load
• HIV viral load
• HIV genotyping (available by special request)
• Human papillomavirus (available by special request)
• Other pathogens (CMV, etc.) available by special request

Genetic Tests

• Fragile X screening
• Factor V Leiden (R506Q)
• Prothrombin gene mutation (20210A)
• Cystic Fibrosis screen

Hematologic Malignancies

• B- and T-cell gene rearrangements
• BCR-ABL transcript with quantitation

Other

Tests available by special request (either NY-state approved, or to be developed, in conjunction with individual investigators)