Human Genetics Laboratory

Breakage Studies

Test Includes:

Assessment of spontaneous and induced chromosome breakage to assist in diagnosis of chromosome breakage syndromes.

Indications:

Suspected Fanconi Anemia or other breakage syndromes.

Sample Requirements:

3-5 ml peripheral blood in a sodium-heparin tube.
Newborn: 1-3 ml of blood in a sodium-heparin tube.

Shipping Requirements:

Transport at room temperature. Deliver ASAP with a completed Cytogenetics & Molecular Cytogenetics Requisition form. Notify HGL by calling (402) 559-5070 when specimen is being shipped.

Turnaround Time:

Newborns: 3-10 days

Non-STAT: 5-15 days

CPT Code:

88291, 88249(x2), 88230(x3)