Confirm diagnosis of a known aneuploid syndrome or detect a chromosome translocation. This test is intended for constitutional studies. Refer to Cytogenomic SNP Microarray (2003414) for the PREFERRED FIRST-TIER test for intellectual disability, multiple anomalies, and autism-spectrum disorders. For chromosome analysis to evaluate for an oncology finding, refer to Chromosome Analysis, Leukemic Blood (2002290).
Green (sodium heparin).
Do not freeze or expose to extreme temperatures. Transport 5 mL whole blood. (Min: 2 mL)
Frozen specimens. Clotted specimens.
Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Refer to report.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
These studies involve culturing of living cells; therefore, turnaround times given represent average times which are subject to multiple variables. After specimen receipt, results are generally available in an average of 10 days.
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.
Testing on a neonate, 7 days old or younger, will automatically order a preliminary chromosome analysis (intended to identify whole chromosome aneuploidies and large structural rearrangements). This will be reported under the same accession number as the final chromosome report, and is generally available in 2-3 days, if sample quantity and metaphase quality permits. Final results will be available within 5-7 days.
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 form with the electronic packing list (https://ltd.aruplab.com/Tests/Pdf/20).
88262; 88230; 88291
|Component Test Code*||Component Chart Name||LOINC|
|0097640||Chromosome Analysis, Peripheral Blood||29770-5|
|2002205||EER Chromosome Analysis Peripheral Blood||11526-1|
- Chromosome Analysis, Congenital Disorders, Blood
- Chromosome rearrangement
- Chromosome Study
- Chromosomes, Cord Blood
- Congenital karyotype analysis
- Constitutional Study