DEB Chromosome Breakage Analysis for Fanconi Anemia DEBFAN

Synonyms

Allscripts (AEHR) Order Name

DEB Fancon Anemia, Chromosomes

Sunrise Clinical Manager (SCM) Order Name

DEB Fancon Anemia Chromosomes

Clinical Info

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.

Specimen Type

Blood

Container

Dark Green

Collection Instructions

Container/Tube: Sodium Heparin (Green top) Tube
      Alternate Specimens: Whole blood collected in: sodium heparin (royal blue-top or tan-top, lead   free) tube  
Specimen: 10 mL whole blood ( 2 mL min)  Infants: 3 mL whole blood (2 mL min)
Transport Temperature: Room Temperature
 
Collection Instructions
Diagnostic test only. This test will not detect carriers of a Fanconi anemia gene mutation. Clinical history and reason for referral are required with test order. Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject. This test may be canceled and replaced by: Chromosome Analysis, Blood, No Growth, if the specimen does not yield mitotically active cells for analysis; or with a Cytogenetics Communication, if a communication is required.
 
Collection:
  Clinical history and reason for referral are required with this test.
Diagnostic test only. This test will not detect carriers of a Fanconi anemia gene mutation.
 

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Chromosome Breakage (DEB) • Tissue Culture

Days Performed

Sunday - Saturday am
Report available: 15 days

Performing Laboratory

Quest Diagnostics' Nichols Institute, Inc. - Chantilly

CPT

88230
88249

PDM

1759178

Result Interpretation

See Laboratory Report
 

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