Chromosome Analysis, Blood, Breakage Syndromes


Abbrev Code:BLBRCG   
Order Code:LAB4692Order Name:Blood, Breakage Study
Synonyms:CHROMO BREAK; Ataxia Telangiectasia; G-bands; Nijmegan Breakage Syndrome; Accidental Radiation Exposure; Clastogen Exposure
Methodology:Chromosome breakage analysis; determined by laboratory director based on clinical information.
CPT Codes: 88230 x1, 88248 x1, 88291 x1
Turnaround Time: Results are reported within 7-21 days.
Special Instructions:Test request form requires:
  • Date and time of specimen collection
  • Specimen type
  • Patient information: date of birth, sex and medical record number
  • Ordering physician and contact number
  • Reason for referral
  • Clinical status
  • Information regarding medications or transfusions
  • Previous or pending genetic testing results


    A signed informed consent in the patient's medical record is required. The consent should not be sent to the laboratory. A link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. See Associated Links.
Associated Links:

Genetic Testing Consent Form


Collection Instructions

Specimen:Whole blood
Optimal Volume:5 mL
Minimum\Peds Volume:3 mL
Container:Green (sodium heparin, no gel)
Causes for Rejection:Clotted or frozen specimen. Incorrect specimen collection tube (anticoagulant).


Processing and Shipping

Specimen Processing:Specimens are processed daily, Mon-Sun. Specimens must be received in the Cytogenetics laboratory Mon-Fri by 530 pm; Weekends and Holidays by 430 pm. Specimens received after these cutoffs will be processed the following day. Store at room temperature.
Shipping Instructions:Ship at room temperature.
Stability:
For optimal testing results the specimen must arrive within 24 hours.  
Test Performed at or Referral Lab Cytogenetics  (UMMC East Bank)


Interpretive

Use: Evaluation of baseline (sometimes referred to as spontaneous) chromosomal breakage may be indicated in patients who:
  1. Have had intentional or accidental exposure to radiation or other clastogen exposure.
  2. Are suspected of having a chromosomal instability disorder such as ataxia telangiectasia or Nijmegen Breakage Syndrome.


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