Chromosome Analysis, Blood, Mosaicism

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CHROMOSOME ANALYSIS, BLOOD, MOSAICISM

TURNAROUND TIME: 10 days

TESTING METHODOLOGY: Chromosome analysis of metaphase cells
 
SPECIMEN REQUIREMENTS:
  • Collect: 3-5 mL peripheral blood in sodium heparin (green) for children and adults; 1-2 mL peripheral blood in sodium heparin (green) for newborns
  • Min. Collection: 1 mL for newborns; 2 mL for children and adults
  • Transport: peripheral blood in sodium heparin (green) at 20-25°C
  • Stability: Ambient: 24 hours; Refrigerated: 72 hours; Frozen: unacceptable
  • Unacceptable Conditions: Frozen or clotted specimens; specimens in anticoagulants other than sodium heparin
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 550 band level; 2 karyotypes, analysis of 5 metaphase cells and count of a minimum of 50 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 evaluate possible chromosomal mosaicism identified in peripheral blood lymphocytes; mosaicism is the presence of more than one cell line.
  • To evaluate patients with clinical features suggestive of chromosomal mosaicism
Additional Resources:
 
Genetics Home Reference: http://ghr.nlm.nih.gov/chromosomes