Ordering Recommendation

Use to 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).

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation

Green (sodium heparin).

Specimen Preparation

Do not freeze or expose to extreme temperatures. Transport 5 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Room temperature.

Unacceptable Conditions

Frozen specimens. Clotted specimens.


Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable


Giemsa Band




3-10 days

Reference Interval

By report

Interpretive Data

Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)


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.

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).

Hotline History


CPT Codes

88262; 88230


Component Test Code* Component Chart Name LOINC
0097640 Chromosome Analysis Constitutional Blood 29770-5
2002205 EER ChromosomeAnalysis ConstitutionalBld 11526-1
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • Chromosome Analysis, Congenital Disorders, Blood
  • Chromosome rearrangement
  • Chromosome Study
  • Chromosomes, Cord Blood
  • Congenital karyotype analysis
  • Constitutional Study
Chromosome Analysis, Constitutional Peripheral Blood