Cytogenetics is the study of chromosome structure, pathology, function, and behavior as it relates to genetic disease. Cytogenetic analysis uses routine G-banded chromosome analysis and higher-resolution banding as well as molecular methods such as fluorescence in situ hybridization (FISH) and whole genome microarray analysis. Chromosome abnormalities identified using these tests can give physicians and patients clues to the etiology of diseases and conditions, including multiple congenital anomalies, developmental delay, autism, and pregnancy loss. Our Constitutional Cytogenetic Laboratory offers testing for the identification of chromosomal aberrations in many sample types, including peripheral blood, amniotic fluid, chorionic villus sampling, products of conception, and skin biopsy. The laboratory also offers FISH analysis for certain formalin-fixed, paraffin-embedded solid tumors, including HER2 in breast carcinoma.
Experts
Tests
- Chromosome Analysis, skin biopsy
- Chromosome Analysis, prenatal, amniotic fluid
- Chromosome Analysis, prenatal, chorionic villi
- Chromosome Analysis, products of conception
- Chromosome Analysis with Reflex to SNP Array, Peripheral Blood
- Chromosome Analysis with Reflex to SNP Array, Products of Conception
- Chromosome Analysis, congenital disorders, peripheral blood
- Cytogenomic SNP Array, Peripheral Blood
- Cytogenomic SNP Array, Products of Conception
- FISH, congenital disorders, peripheral blood
- FISH, prenatal, amniotic fluid
- FISH, prenatal, chorionic villi
- FISH, products of conception
- FISH, skin biopsy
- Skin Biopsy Culture for sendout, cytogenetics