Test Code CHRTI Chromosome Analysis, Skin Biopsy
Reflex Tests
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
_M15A | Metaphases, 1-14 | No, (Bill Only) | No |
_M19 | Metaphases, 15-20 | No, (Bill Only) | No |
_MG19 | Metaphases, >20 | No, (Bill Only) | No |
_KTG2 | Karyotypes, >2 | No, (Bill Only) | No |
_STAC | Ag-Nor/CBL Stain | No, (Bill Only) | No |
Testing Algorithm
This test includes a charge for cell culture of fresh specimens and professional interpretation of results. Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 metaphase cells. If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required, additional charges may be incurred.
Method Name
Cell Culture followed by Chromosome Analysis
Specimen Type
TissueShipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
Provide a reason for testing with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.
Specimen Required
Specimen Type: Skin biopsy
Container/Tube: Sterile container with sterile RPMI transport media, Ringer's solution, or normal saline-RPMI transport media (T095-Petri dish is not needed for this test).
Specimen Volume: 4 mm diameter
Collection Instructions:
1. Wash biopsy site with an antiseptic soap.
2. Thoroughly rinse area with sterile water.
3. Do not use alcohol or iodine preparations.
4. A local anesthetic may be used.
5. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.
Specimen Minimum Volume
4 mm punch biopsy
Specimen Stability Information
Specimen Type | Temperature | Time |
---|---|---|
Tissue | Refrigerated (preferred) | |
Ambient |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Chromosomal abnormalities cause a wide range of disorders associated with birth defects and congenital diseases. Usually, the abnormalities can be demonstrated in peripheral blood, which is readily available. Chromosome analysis on skin fibroblasts may be indicated when the results from peripheral blood are inconclusive or in clinical circumstances such as suspected cases of chromosome mosaicism, confirmation of new chromosome disorders, or some dermatological disorders.
Subtle structural chromosomal anomalies can occasionally be missed.
Chromosomal mosaicism may be missed due to statistical sampling error (rare).
Reference Values
An interpretative report will be provided.
Day(s) Performed
Monday through Friday
Report Available
23 to 24 daysPerforming Laboratory

CPT Code Information
88233, 88291- Tissue culture for skin/biopsy, Interpretation and report
88262 w/modifier 52-Chromosome analysis less than 15 cells(if appropriate)
88262-Chromosome analysis with 15 to 120 cells (if appropriate)
88262, 88285-Chromosome analysis with greater than 20 cells (if appropriate)
88280-Chromosome analysis, greater than 2 karyotypes (if appropriate)
88283-Additional specialized banding technique (if appropriate)
Forms
New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available: