Chromosome Analysis, Skin Biopsy
Use
This test is useful for diagnosing mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities. It is also used for subsequent chromosome analysis when results from peripheral blood are inconclusive. Chromosome analysis on skin fibroblasts may be indicated when results from peripheral blood are inconclusive or in cases of suspected chromosome mosaicism, confirmation of new chromosome disorders, or specific dermatological disorders.
Special Instructions
Not provided.
Limitations
Subtle structural chromosomal anomalies can occasionally be missed. Chromosomal mosaicism may also be missed due to statistical sampling error, especially if the abnormalities are not present in a high percentage of cells. The test is limited by factors such as transport time, inadequate fluid volume for analysis, improper packaging, or exposure to temperature extremes, all of which can impact cell culture viability.
New York Approved
Methodology
Chromosomal / Cytogenetics (G-banding)
Biomarkers
Unknown CNV
Copy Number Region
LOINC Codes
- 62353-8 - Chrom analy pnl Skin G-banded
- 50397-9 - Mol dx interp Bld/T Ql
- 69965-2 - Clinical cytogeneticist review
- 82939-0 - Genetic variant details Bld/T
- 42349-1
- 31208-2 - Specimen source
- 85069-3 - Lab test method
- 62359-5 - Chrom banding method
- 48767-8 - Annotation comment Imp
- 18771-6 - Provider signing name
Result Turnaround Time
23-24 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Unknown)
Volume
4 mm diameter
Minimum Volume
4 mm punch biopsy
Container
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).
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.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | preferred |