Cytogenetics Chromosome Breakage Analysis (Blood)

CPT 88230; 88248; 88249

Test Details

Turnaround Time

13 - 18 days Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Use

Chromosome analysis with DEB-induced breakage to assist in the diagnosis of Fanconi anemia (FA).

Special Instructions

This test is not appropriate for other chromosome fragility syndromes. In addition, it is important to note that this test has been validated for blood specimens, not marrow.

Specimen Requirements

Information on collection, storage, and volume

Specimen

Whole blood

Volume

5-10 mL (adult); 2-5 mL (child - less for newborn)

Container

Green-top (sodium heparin) tube

Causes for Rejection

Hemolysis; specimen clotted; use of improper anticoagulant; frozen specimen

Collection

High concentrations of heparin are toxic. Do not collect small volumes into large vacutainers or add additional heparin to specimens.