Chromosome Analysis, Blood, High Resolution

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CHROMOSOME ANALYSIS, BLOOD, HIGH RESOLUTION

TURNAROUND TIME: 10 days

PRELIMINARY VERBAL REPORT: Available for the referring physician after 48 hours for newborns only.
 
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 20-25oC
  • 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 650 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:
  • High resolution chromosome analysis for detection of subtle constitutional chromosome abnormalities
  • Detection of structural chromosome abnormalities (translocations, inversions, deletions, etc.)
  • Patients with multiple congenital abnormalities
  • Patients with developmental delay or mental retardation
  • Couples with two or more pregnancy losses or infertility
  • Patients with a family history of a subtle chromosome abnormality detected by high resolution analysis
ADDITIONAL RESOURCES:
Genetics Home Reference: https://medlineplus.gov/genetics/