Chromosome analysis for possible mosaic abnormalities, including aneuploidy and structural abnormalities.
- 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
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 Cytogenetic (Chromosome) Studies form with the electronic packing list (available at http://www.aruplab.com/genetics/forms.php).
|Component Test Code*||Component Chart Name||LOINC|
|0097655||Chromosome Analysis, Skin Biopsy||29770-5|
|2002208||EER Chromosome Analysis, Skin|
- Karyotype, Mosaic study
- Karyotype, Skin Biopsy
- Karyotype, Tissue Biopsy
- Mosaic Chromosome Study
- Mosaic Down syndrome
- mosaic Turner syndrome
- Mosaicsm study, skin or Tissue