Chromosomal Analysis
The Cytogenetics Laboratory at Stanford is a full-service cytogenetics laboratory. Standard chromosomal analyses are performed on all tissue types for diagnosis of congenital anomalies and mental retardation; leukemias, lymphomas and other hematological disorders; and solid neoplasms. As well, we offer fluorescence in situ hybridization (FISH) for microdeletion syndromes and other indications, identification of marker chromosomes and specific rearrangements, HER2 amplification in breast cancer, screening for recurrent bladder cancer (UroVysion) and subtelomeric repeat studies for cryptic translocations. In addition, using the latest technology, the Cytogenetics Laboratory offers array comparative genomic hybridization (aCGH) for individuals with developmental delay/mental retardation and congenital anomalies who have a normal high resolution chromosome study.
Cytogenetics reports consist of:
- Sample type & test performed
- Number of metaphases analyzed
- Number of karyotypes prepared (& representative metaphase)
- Type of banding & band resolution level
- Karyotype/FISH description using ISCN 2009
- Documentation of preliminary results
- Interpretation/summary incorporating and correlating relevant clinical information
When necessary, we also make recommendations for further testing and/or genetic counseling.
Affiliated services
