CHROMOSOME ANALYSIS, BLOOD, LIMITED WITH REFLEX TO CHROMOSOME ARRAY (aCGH)
TURNAROUND TIME: 7 days
PRELIMINARY VERBAL REPORT: Available for the referring physician after 48 hours for newborns only
TESTING METHODOLOGY: Chromosome analysis of metaphase cells with reflex to aCGH if no abnormality is identified
- Collect: 3-5 mL peripheral blood in sodium heparin (green) for children; 1-2 mL peripheral blood in sodium heparin (green) for newborns
- Min. Collection: 1 mL for newborns; 2 mL for children
- Transport: peripheral blood in sodium heparin (green) at 20-25oC
- 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 400 band level; 1 karyotype, analysis of 2 metaphase cells and count of 5 metaphase cells.
Test Variables: This study involves culturing of living cells. Therefore, turnaround times given represent average times which are subject to multiple variables.
Test Limitations: Small chromosome rearrangements and mosaicism are not detected.
Indications for Use:
- Limited chromosome analysis for detection of constitutional chromosome abnormalities
- Detection of aneuploidy (trisomies, monosomies) or large rearrangements only