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.
Biochemical Genetics Laboratory:
Tests are performed to analyze blood, urine, spinal and other body fluids for abnormal metabolites. Inborn errors of metabolism (IEM) are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food. Biochemical genetic testing utilizes instrumentation such as HPLC, GCMS, and LCMSMS to determine altered levels of amino acids, organic acids, total and free cartinines, and acylcarnitines. Testing offered includes screens to evaluate levels of metabolites in newborns (supplemental and expanded from the State Newborn Screen), in patients with Phenylketonuria (PKU) and a variety of other Inborn Errors of metabolism (IEM).
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.