Chromosome Analysis, Skin Biopsy
Also known as: CHR SKIN
Use
Chromosome analysis is utilized to identify possible mosaic abnormalities, including aneuploidy and structural abnormalities. This test is crucial for diagnosing genetic disorders and syndromes, such as Trisomy 18 (Edwards syndrome) and mosaic Turner syndrome, and it aids in clinical decision-making in cases with suspected chromosomal anomalies.
Special Instructions
Informed consent is recommended and required for New York clients when ordering this test. Client should ensure that skin biopsy is placed in a sterile, screw-top container filled with tissue transport medium. If cytogenetics tissue media is unavailable, alternatives such as plain RPMI, Hanks solution, saline, or ringers can be used. A larger sterile container, such as a sterile urine cup, may be necessary for larger specimens.
Limitations
This test may not detect small chromosomal rearrangements or low-level mosaicism and cannot identify submicroscopic deletions or duplications detectable by genomic microarray analysis. Results may be delayed if clinical indication or reason for testing is absent in the initial order. Variability in culturing of living cells could influence the reported turnaround times.
New York Approved
Methodology
Chromosomal / Cytogenetics (Karyotype)
Biomarkers
LOINC Codes
- 11526-1
- 29770-5
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Skin
Volume
4 mm skin biopsy
Minimum Volume
Not provided
Container
Sterile, screw-top container filled with tissue transport medium
Collection Instructions
Thaw media prior to tissue inoculation. Transport at room temperature.
Storage Instructions
Room temperature.
Causes for Rejection
Frozen specimens. Specimens preserved in formalin.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |