Chromosome Analysis, Skin

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CHROMOSOME ANALYSIS, SKIN

TURNAROUND TIME: 21 to 28 days.

 
TESTING METHODOLOGY:
Chromosome analysis of metaphase cells
 
SPECIMEN REQUIREMENTS:
  • 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
A Cytogenetics Laboratory Test Requisition must accompany the specimen. Contact the Cytogenetics Laboratory at 918-502-1722 to obtain further information.

INTERPRETIVE DATA:
 
 
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.