The Division of Genetics in the Department of Pathology and Laboratory Medicine offers state-of-the-art testing in cytogenetics and molecular genetics.
The division has a full service laboratory which offers cytogenetic, molecular genetic, and fluorescent in situ hybridization (FISH) testing for constitutional chromosome abnormalities (prenatal, pediatric and adult samples), as well as acquired chromosome abnormalities (leukemia, lymphoma and solid tumors). In addition, molecular testing is offered for selected single gene disorders.
- Standard chromosome analysis.
- High resolution chromosome analysis.
- Molecular cytogenetics (FISH).
- Rapid trisomy detection in uncultured amniocytes (N-FISH) and newborn infants.
- FISH to detect micro-deletion syndromes.
- HER-2/neu amplification studies for breast cancer.
- Molecular genetics.
- Cytogenomic microarray analysis.
- Fragile X syndrome.
- Cystic Fibrosis prenatal screening.
- Factor V Leiden mutation.
- Prothrombin gene mutation.
- Methylenetetrahydrofolate reductase (MTHFR).