Chromosome Study: Routine Peripheral Blood

Additional Information:

UFHPL Epic order code: LAB5851

CPT Code(s):

• 88230
• 88262
• 88291

Specimen Requirements:

*Please note:  If ordering both a chromosome analysis/FISH study AND a microarray analysis, please draw two separate tubes of blood. Chromosomes/FISH studies require as close to 2.0ml+ as possible, collected in a dark green sodium heparin tube. Microarrays require the same volume (~2.0ml+) and the preferred tube is a lavender EDTA, but a dark green sodium heparin is also acceptable. Further details for UF PathLab’s cytogenetics requirements are available here and LabCorp microarray requirements are available here.

Peripheral Blood: Peripheral blood must be collected aseptically in dark green-top sodium heparin tube and immediately rotate it thoroughly to ensure adequate mixing with the anticoagulant and 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.

^{* 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.}

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.

Methodology:

Classic cytogenetic G-band analysis (karyotyping); requires cell culture

Reported:

14 – 21 days
7-10 days for newborns (one month or less)

Reference Values:

By report; interpretive