Chromosome Study: Routine Peripheral Blood

Methodology: 
Classic cytogenetic G-band analysis (karyotyping); requires cell culture
Performed: 
Monday - Saturday
Reported: 
14 - 21 days
Use: 

This test is used to assess the karyotypic status in individuals with phenotypic abnormalities who are suspected to have congenital chromosome abnormality (e.g., down syndrome or trisomy 21) and/or be a carrier of a chromosome abnormality by clinical or family history.

Specimen Requirements: 

Peripheral Blood: Peripheral blood must be collected aseptically in sodium heparin tubes (usually greentop tubes) and immediately rotated thoroughly to prevent clotting; for infants, obtain approximately 2 cc, and obtain 5 - 7 cc for children and adults.

Note: A separate blood sample is required if concurrent CGH microarray study is desired.

Do not freeze or fix samples in any manner contrary to the maintenance of cell viability. Maintain sample sterility; keep all specimens at room temperature; and deliver samples to the laboratory within 24 - 48 hours. Ship specimens at room temperature for overnight delivery.

Unacceptable Conditions:
  • Frozen specimens
  • Specimens greater than 48 hours old*
Stability (collection to initiation of testing):
  • Ambient: 24 - 48 hours old*
  • Frozen: Unacceptable

* Cell viability of specimens requiring cell culture may be compromised in specimens greater than 48 hours old upon receipt. Refrigeration at 2° - 8° C may assist when a delay in delivery is unpreventable. Do not freeze or place specimens directly on ice.

Reference Values: 

By report; interpretive

CPT Code (s): 
  • 88230
  • 88262
  • 88291
Notes: 

UFHPL Test #: 30055

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