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Chromosome Analysis, DEB Assay for Fanconi Anemia, Prenatal
Test Code17455
CPT Codes
88235, 88249
Preferred Specimen
25 mL fresh amniotic fluid collected in sterile, nontoxic centrifuge tubes
Minimum Volume
15 mL
Other Acceptable Specimens
Primary or early passage monolayer prenatal cultures submitted in two T-25 flasks filled with culture medium
Instructions
Fanconi anemia (FA) is a relatively rare condition, resulting from a group of recessive genetic diseases, that is characterized by an increased incidence of neoplasia, especially leukemia. Cultured cells (amniocentesis or CVS) or placental tissues from affected fetuses show an increased number of chromosome breaks and aberrations with alkylating agents such as diepoxybutane (DEB). Laboratory must be notified in advance of receipt of specimen. Specific indication for study must be provided.
Clinical history/reason for referral is required with specimen submission.
Clinical history/reason for referral is required with specimen submission.
Transport Temperature
Room temperature
Specimen Stability
Specimen viability decreases during transit. Send specimen to testing lab for viability determination.
Do not freeze. Do not reject.
Do not freeze. Do not reject.
Methodology
Tissue Culture • Chromosome Breakage (DEB)
Setup Schedule
Set up: Mon-Sat; Report available: 21 days
Reference Range
See Laboratory Report
Clinical Significance
The DEB clastogen assay is considered a specific test in the diagnosis of Fanconi anemia. Precise specificity and sensitivity levels have not been established due to the rarity of the disease.
