Chromosomal Breakage Studies
Epic Lab Code: CYT55
Downtime Form: C-12 Cytogenetics Request
Shivanand R. Patil Cytogenetics & Molecular Laboratory (Dept. of Pediatrics)
W-101 GH
356-3877 (Laboratory)
Specimen(s):
Peripheral Blood
Specimen Instructions:
If a specimen is collected over the weekend, please page the technologist on call by dialing 1-888-533-0186. When it stops ringing, enter your phone number, the '#' sign, and hang up. Provide details of clinical information (for example: rule out Fanconi anemia, Ataxic telangiectasia, or Bloom syndrome) and family history (if applicable).
Collection Medium:
Green top tube 10 mL (Na Heparin) Hospital Stores #907693
Minimum:
5-10 cc adult, 2 cc infants (the minimum draw may preclude complete testing, please contact the lab) of venous blood collected in a green- top Vacutainer® with sodium heparin. Invert tube to mix well. Label the tube with patient name and medical record number. DO NOT FREEZE OR CENTRIFUGE
Delivery Instructions:
Submit specimen to laboratory as soon as possible after collection.
Testing Schedule:
Specimens accepted in the lab Monday-Friday, 0800-1700. After hours specimens should be taken to specimen control and a message left on the lab voice mail. In the case of an emergency, follow the instructions on the lab voice mail.
Turn Around Time:
Allow 2-3 weeks for final results.
Reference Range:
Male: 46,XY Female: 46,XX Cells with breakage compared to control.
Comments:
Breakage studies are cultured with a concurrent control. If the patient has been transfused, wait a minimum of two weeks before obtaining the specimen.

Shivanand R. Patil Cytogenetics & Molecular Laboratory Website
CPT Code:
88230, 88248, 88291
 
See Additional Information:
Cytogenetics and Molecular Testing