Cytogenetics

Chromosome disorders are relatively common in the population and form a major category of human genetic disease. The Cytogenetics Laboratory provides comprehensive services in all types of chromosome studies, including prenatal diagnosis, congenital disorders and hematologic/oncologic disorders. These studies include both traditional cytogenetics banding techniques as well as molecular cytogenetics methods by fluorescence in situ hybridization (FISH). Please refer to the test listing for details. Our laboratory director and staff are committed to providing the highest quality of cytogenetic analyses available to complement your clinical practice. Some “STAT” studies will be completed within 24-48 hours, most take less than 10 days.

1. Cancer Cytogenetic Analysis: to determine characteristic chromosome abnormalities associated with leukemias, lymphomas and other cancers, such as the Philadelphia chromosome in CML, PML/RARA in AML-M3, AML1/ETO in AML-M2 etc using both chromosome and FISH techniques. (Cancer Cytogenetic Analysis Requisition Form)

2. Routine Cytogenetic Analysis: to determine the causes of recurrent miscarriage, infertility, mental retardation, or familial history of chromosome anomalies using routine or high resolution chromosome study, microdeletion/microduplication FISH analysis, subtelomeric FISH analysis and comparative genomic hybridization*. (Routine Cytogenetic Analysis Requisition form)

3. Prenatal Diagnosis: for advanced maternal age, a parental carrier or previous child with chromosome defects, positive maternal serum quadruple screening and abnormal ultrasound findings. (Prenatal Diagnosis Requisition Form)

Specimen Requirements