CHROMOSOME ANALYSIS, BLOOD, MOSAICISM
TURNAROUND TIME: 10 days
TESTING METHODOLOGY: Chromosome analysis of metaphase cells
- 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
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