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Chromosome Analysis, blood (germline)

Collection Requirements

Source: blood

Container: Sodium heparin green
Volume:

  • Preferred: 2-3 mL vacutainer
  • Newborn minimum: 1-2 mL in vacutainer

Special Instructions

  • Transport at room temperature; avoid fluctuating temperatures (hot or cold)
  • Send immediately; delays impact specimen integrity
  • Contact Genetics for specialty testing
  • Indicate clinical diagnosis or information on requisition

Turn Around Time

18 days

Availability

Routine

Lab Processing Instructions

Specimen: whole blood
Room temperature

Performing Laboratory

Genetics

Adele Hall Lab Section

Cytogenetics

Instrumentation/Methodology

PHA-stimulated lymphocyte cultures. The cells are processed by exposure to colcemid and hypotonic solution, then fixed. Metaphase cells are prepared on slides and GTG banded. Chromosomes analysis and image captured are performed on a computerized imaging system. Specialty staining available.

Additional Information

Indications for testing: Dysmorphic features; Multiple congenital anomalies with or without intellectual disability; Intellectual disability; Failure to thrive; Short Stature which includes Turner Syndrome; Suspicion of sex chromosome disorder including Klinefelter Syndrome; Suspicion of aneuploidy or polyploidy; Parent, family member or family history of a known chromosome abnormality; Recurrent pregnancy loss

Reference Ranges

See interpretive report

CPT

88262, 88230