Medical Genetics Tests
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 http://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.
The Molecular Diagnostics Laboratory utilizes state of the art technology to provide molecular testing services for inherited and acquired disorders. Testing methodologies are PCR and RT-PCR based and include allelic discrimination assays, fragment analysis assays, sequencing assays, and real-time quantitative analysis. More Info
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
FISH (Fluorescence In Situ Hybridization)
The laboratory provides FISH analysis for microdeletion syndromes, fetal aneuploidy, neoplastic studies, hematologic disorders, and sarcoma, including HER-2 amplification analysis in FFPE. More Info
High density Oligonucleotide/SNP microarray analysis is performed to detect copy number changes in constitutional, prenatal and leukemic studies.
Please download and print these PDF forms when ordering tests: