Ordering Recommendation

Chromosome analysis for possible mosaic abnormalities, including aneuploidy and structural abnormalities.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation

Thaw media prior to tissue inoculation.

Specimen Preparation

DO NOT FREEZE. Do not place in formalin. Transport a 4 mm skin biopsy in a sterile, screw-top container filled with tissue transport medium.

Storage/Transport Temperature

Room temperature.

Unacceptable Conditions

Frozen specimens. Specimens preserved in formalin.


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


Giemsa Band




14-21 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.

Place skin biopsy in a sterile, screw-top container filled with tissue culture transport medium (ARUP Supply # 32788) Available online through eSupply using ARUP Connect™ or contact ARUP Client Services at (800) 522-2787. If cytogenetics tissue media is not available, collect in plain RPMI, Hanks solution, saline, or ringers.

If specimen size is too large for a normal collection tube, a larger sterile container can be used such as a sterile urine cup and can be flooded with several tubes of cytogenetic tissue media.

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; 88233


Component Test Code* Component Chart Name LOINC
0097655 Chromosome Analysis, Skin Biopsy 29770-5
2002208 EER Chromosome Analysis, Skin 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.


  • Karyotype, Mosaic study
  • Karyotype, Skin Biopsy
  • Karyotype, Tissue Biopsy
  • Mosaic Chromosome Study
  • Mosaic Down syndrome
  • mosaic Turner syndrome
  • Mosaicsm study, skin or Tissue
Chromosome Analysis, Skin Biopsy