CHROMOSOME ANALYSIS, SKIN
TURNAROUND TIME: 21 to 28 days.
Chromosome analysis of metaphase cells
- Collect: skin biopsy in sterile tissue culture medium or sterile saline; specimen must be kept moist and sterile
- Min. Collection: 3 x 3 mm skin biopsy
- Transport: specimen in sterile fluid at 20-25oC
- Stability: Ambient: 24 hours; Refrigerated: 24 hours; Frozen: unacceptable
- Unacceptable Conditions: Frozen specimens; specimens in non-sterile fluids and containers
Methods: Giemsa band (G-band) analysis at approximately a 400 - 500 band level; 2 karyotypes, analysis of 5
metaphase cells and count of 20 metaphase cells
Test Variables: This study involves culturing of living cells. Therefore, turnaround times given represent average times which are subject to multiple variables.
Indications for Use:
- To identify constitutional chromosome abnormalities observed in skin fibroblasts but not in peripheral blood lymphocytes (e.g. Pallister-Killian syndrome)
- To evaluate possible tissue-specific variation in patients with chromosomal abnormalities identified in peripheral blood lymphocytes.