Chromosome Analysis, Rule Out Mosaicism
Also known as: CHR R/OM
Use
This test is designed to analyze chromosomes and is used primarily to rule out low-level mosaicism by increasing the number of cells counted and analyzed. It is particularly useful for diagnosing genetic conditions associated with chromosomal abnormalities, such as Turner syndrome, as well as other conditions that might involve chromosomal mosaicism.
Special Instructions
Counseling and informed consent are recommended for genetic testing, particularly for New York clients where informed consent is required. Clinical indication or reason for testing and specimen type are required with the test order. The test must be ordered using Cytogenetic test request form #43097 or through the ARUP interface.
Limitations
The standard cytogenetic methodology used in this analysis may not detect small rearrangements or submicroscopic deletions or duplications that are detectable by genomic microarray analysis. It does not rule out mosaicism for other cell lines. If mosaicism is still of concern, consider testing an alternative tissue sample, as levels of mosaicism may vary across different tissues.
New York Approved
Methodology
Chromosomal / Cytogenetics (Giemsa Band)
Biomarkers
Result Turnaround Time
3-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
2 mL
Container
Green (sodium heparin) tube
Storage Instructions
Room temperature
Causes for Rejection
Frozen specimens, Clotted specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |