Chromosome Analysis, Rule Out Mosaicism
Ordering Recommendation
Increased number of cells counted/analyzed to rule out low-level mosaicism.
New York DOH Approval Status
Specimen Required
Green (sodium heparin) tube.
Do not freeze or expose to extreme temperatures. Transport 5 mL whole blood. (Min: 2 mL)
Room temperature.
Frozen specimens. Clotted specimens.
Counseling and informed consent are recommended for genetic testing. Consent forms are linked above.
New York Clients: informed consent is required with submission.
Clinical indication or reason for testing and specimen type required with test order. Sample will still be processed if this information is not initially provided but appropriate culturing and reporting may be compromised or delayed.
Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Methodology
Giemsa Band
Performed
Sun-Sat
Reported
3-10 days
Reference Interval
Refer to report
Interpretive Data
Refer to report
Laboratory Developed Test (LDT)
Note
These studies involve culturing of living cells; therefore, turnaround times given represent average times, which are subject to multiple variables.
A processing fee will be charged if this procedure is canceled at the client's request after the test has been set up or if the specimen integrity is inadequate to allow culture growth.
Specimen and completed test request form, including clinical indication, must be received within 48 hours of collection.
This test must be ordered using Cytogenetic test request form #43097 or through your ARUP interface. Submit the Patient History for Pediatric/Adult Cytogenetic (Chromosome) Studies with the electronic packing list (https://ltd.aruplab.com/Tests/Pdf/20).
Hotline History
CPT Codes
88230; 88263
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 0097650 | Chromosome Analysis, Rule Out Mosaicism | 29770-5 |
| 2002207 | EER Chromosome Analysis, R/O Mosaicism | 11526-1 |
Aliases
- Karyotype
- Mosaic Chromosome Study
- Mosaic Down syndrome
- mosaic study
- mosaic Turner syndrome
















