Conventional cytogenetics (chromosome analysis) analyze the whole genome in a single assay. Developed over 50 years ago, this assay still plays a vital role in postnatal diagnostics because it allows for simultaneous characterization of chromosome number and structure.
This test can be performed on blood or skin/tissue from pediatric and adult patients.
Test details and complementary testing
- Some chromosome alterations are too small or subtle to detect by Chromosome Analysis. Other testing, such as Postnatal FISH or High Density SNP Microarray, may be indicated to further investigate chromosomal abnormalities.
- Chromosome Analysis only provides information relating to the number and structure of chromosomes; it does not evaluate for single gene disorders. Depending on the clinical presentation of a patient, Targeted Gene Sequencing or an Indication-Specific Gene Panel test may be most appropriate.
- Chromosome Analysis cannot diagnose Fanconi Anemia (FA), a disorder characterized by physical abnormalities, progressive bone marrow failure, and increased cancer susceptibility. Chromosome breakage studies are performed on patients with a suspected diagnosis of FA, and must be ordered separately.
- Detects changes in chromosome number, including aneuploidy and triploidy
- Characterizes both balanced and unbalanced structural rearrangements
- Identifies large-scale deletions and duplications
- Requires mitotic (dividing) cells from a fresh specimen
- Limited resolution as compared to newer technologies such as microarray