Genetic Screenings and Diagnostic Testing

The Center for Human Genetics laboratory is housed instate-of-the-art facilities and has offered genetic screening and diagnostic testing for numerous genetic conditions for more than 25 years.

The laboratory combines clinical practice with genetic research, allowing it to offer patients advanced, innovative diagnostic testing. In addition, as an assurance of its quality, the laboratory is certified by the College of American Pathologists (CAP) and approved by the Clinical Laboratory Improvement Amendments (CLIA). Our faculty includes one board-certified clinical cytogeneticist and one board-certified clinical molecular geneticist/clinical geneticist.

Center for Human Genetics Laboratory at a Glance

  • Clinical & Molecular Cytogenetics Laboratory
    The Cytogenetics Laboratory provides high quality chromosome analysis on a variety of specimens including amniocenteses, chorionic villi sampling, peripheral blood, bone marrow, tumors, and products of conception. The Cytogenetic Laboratory works in close conjunction with our Fluorescence in Situ Hybridization (FISH) section to detect specific abnormalities and to delineate complex karyotypes.
  • Molecular Diagnostic Testing Laboratory
    The Molecular Laboratory offers a variety of testing by direct DNA analyses using PCR-based methodologies, DNA hybridization, methylation analysis, Invader assay, and sequence analysis. Our full-service molecular laboratory offers both clinical testing as well as translational research collaborations.
  • Prenatal Screening Laboratory
    Our Prenatal Laboratory provides testing and interpretation for the routine Triple Check and Quad Check Screens that use three or four markers respectively. These markers are found in the mother's blood and are called alpha-feto protein (AFP), unconjugated estriol (ue3), human chorionic gonadotropin (hcG), and inhibin-A (DNA). The laboratory also offers the routine amniotic fluid AFP (AFAFP) assay.

Contact Us
W.O. Walker Center
6th Floor 10524 Euclid Avenue
Cleveland, OH 44106
216-983-1134

Center for Inherited Disorders of Energy Metabolism (CIDEM) Laboratory at a Glance

CIDEM is a specialized laboratory with focus on disorders of mitochondrial function. These disorders include defects of pyruvate metabolism, the Krebs cycle, fatty acid oxidation, and the electron transport chain. Clinical conditions associated with these disorders include major disabilities affecting the central nervous system, skeletal muscle, heart and other organs. The goal of CIDEM is to provide specialized diagnostic laboratory services on a clinical and/or research basis to facilitate diagnosis and treatment of patients affected with such disorders.

The laboratory is certified by the Clinical Laboratory Improvement Amendments (CLIA). Our faculty is board-certified in clinical biochemical genetics.

Contact Us
Wearn Bldg., Room 649
11100 Euclid Ave
Cleveland, OH 44106
216-844-1286

Specialty Genetics Services