Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Order Display Name: Geisinger Epic Procedure Code Or ID CPT Code:  

CHROMOSOME DEB ASSAY FOR FANCONI ANEMIA

ORDERING INFORMATION:
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:
Culture
Chromosome Breakage
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.

Performing Locations

Quest Diagnostics

Technical Lead: Michael Weaver    
Frequency: Set up: Daily. Report available: 14 days.    
Performed stat? No
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