Skip to main content

Specimen Collection Manual and Test Catalog

  or
  or
  or

CHROMOSOME DEB ASSAY FOR FANCONI ANEMIA

Geisinger Epic Procedure Code:  LAB2264    Geisinger Epic ID:  33296

SPECIMEN COLLECTION
Specimen type: 

Whole blood


Preferred collection container: 
Specimen required: 

10 mL whole blood; minimum 2 to 3 mL.


Special notes: 

Clinical history and reason for referral are required with test order.



SPECIMEN PROCESSING
Transport temperature: 

Room temperature.


Specimen stability: 

Transport specimen immediately after collection. Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.


Rejection criteria: 

Frozen specimen.



TEST DETAILS
Additional information: 

This test may be canceled and replaced by: Chromosome Analysis, Blood, No Growth, if the specimen does not yield mitotically active cells for analysis.


CPT code(s):  88230, 88249
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.

Test includes: 

Diepoxybutane (DEB)-induced chromosome breakage, Fanconi anemia.


Methodology: 
Chromosome Breakage
Culture
Synonyms: 

Quest test code 14598, (DEB)-induced chromosome breakage, Fanconi anemia, Chromosome DEB assay for Fanconi anemia, CRDEB


Clinical significance: 

This test is performed to detect induced chromosome breakage in cells from persons with suspected Fanconi anemia. Diepoxybutane (DEB)-induced chromosome breakage is significantly elevated in Fanconi anemia cells, compared to cells from unaffected individuals.


Review Date:  12/02/2024

Performing Locations