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Geisinger Medical Laboratories Test Catalog
CHROMOSOME DEB ASSAY FOR FANCONI ANEMIA |
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Geisinger Epic Procedure Code: LAB2264
Geisinger Epic ID: 33296
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SPECIMEN COLLECTION |
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Specimen type: |
Whole blood | |
Preferred collection container: |
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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 |
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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 |
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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 |
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Synonyms: |
Quest test code 14598, (DEB)-induced chromosome breakage, Fanconi anemia Chromosome DEB assay for Fanconi anemia CRDEB
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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. | |