> Overview

> DNA Analysis

> Chromosomal Analysis

> FISH

> Parentage

Over the past 15 years, the medical genetics community has witnessed a rapid rise in the identification of disease related genes and subsequent availability of genetic tests that detect disease or an individual's carrier risk of disease.

Currently, greater than 4,000 genetic diseases are known and over 900 genetic tests are available through diagnostic laboratories (see www.genetests.org ).  Genetic tests are now being performed for a variety of reasons. Some tests identify chromosome abnormalities such as aneuploidy and rearrangements. Other tests detect the presence of inherited gene mutations and can confirm a suspected diagnosis of disease, determine an individual's carrier state, or predict future disease. Genetic tests are also performed to identify acquired gene mutations in cancerous cells.

DNA Analysis Currently, the laboratory provides molecular testing for over 20 genetic diseases with new tests continually under development. The laboratory also provides testing for oncology disorders. Testing methodologies include PCR, RT-PCR, real time quantitative PCR, Southern blotting, site specific gene sequencing, and genotyping by automated fluorescence based capillary gel electrophoresis. More Info >

Chromosomal Analysis The laboratory provides complete cell culture services and performs chromosomal analysis on blood, bone marrow, amniotic fluid, chorionic villi, and tissue specimens. All studies are performed using a computer assisted digital imaging and karyotyping system. More Info >

F.I.S.H. (Fluorescence In-Situ Hybridization) The laboratory provides FISH analysis for microdeletion syndromes, fetal aneuploidy, neoplastic studies, hematologic disorders, and sarcoma. More Info >