LABORATORY SERVICES:

Cytogenetics and FISH: Tests are performed on blood, skin, amniotic fluid, and bone marrow cells to diagnose chromosome abnormalities. These abnormalities are responsible for genetic disorders such as Down syndrome, growth and developmental disorders, and multiple miscarriages. Bone marrow analysis helps in the classification and management of hematologic disorders. Fluorescence in situ hybridization (FISH) is available for microdeletion disorders such as Prader-Willi, Angelman, DiGeorge/velocardiofacial, and Williams syndromes as well as for prenatal diagnosis of chromosomal aneuploidies and for some hematological malignancies.

Molecular Genetics:  This laboratory performs testing ranging in complexity from single mutation analysis to sequencing of entire genes. The laboratory offers testing for more than 40 diseases, including many that are very rare or for which testing options are limited. Areas of special interest include Marfan syndrome testing, PKD2 analysis, DNA sequencing for Rett syndrome, McCune-Albright syndrome testing, and tests for hereditary hearing loss. Prenatal samples are accepted for most tests and many tests may be performed with cheek swabs rather than blood samples.