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.
This laboratory performs testing ranging in complexity from single mutation analysis to sequencing of entire genes. The laboratory offers testing for more than 50 diseases, including many that are very rare or for which testing options are limited. Areas of special interest include Marfan syndrome testing, Polycystic Kidney Disease linkage analysis, craniosynostosis syndromes, McCune-Albright syndrome testing, and tests for hereditary hearing loss. Prenatal testing is also available for most of our tests.
Mass Spectrometry Laboratory:
The laboratory provides services with capabilities in methods of measuring masses of biologically relevant molecules by mass spectrometry utilizing a High Performance Liquid Chromatography Triple Quadrupole Mass Spectrometer (LC/MSMS). In addition to performing diagnostic services for inborn errors of metabolism, the laboratory also utilizes LCMSMS to determine levels for a variety of analytes including 25-Hydroxyvitamin D (D2 and D3) and drugs of abuse.