Test name: Chromosome Breakage for Fanconi Anemia
Also known as: Postnatal Cytogenetic Breakage Studies for Fanconi Anemia
Indications: Suspicion of Fanconi Anemia (FA) with symptoms that may include hematologic conditions such as AML and solid tumors, growth retardation, thumb abnormalities and/or radial aplasia, hyperpigmentary skin changes, cardiac, genitourinary, and/or kidney abnormalities.
Test Information: Blood is exposed to Mitomycin C (MMC) and/or Diepoxybutane (DEB) which leads to an increased rate of chromosome breakage in patients with Fanconi Anemia. Chromosome breakage after exposure to DEB is diagnostic for FA but cannot determine the Fanconi Anemia complementation group. Additional send-out testing would be necessary to determine a specific gene associated with the specific complementation group; there are at least 16 different genes known to be associated with FA.
Specimen requirements: Test kits are available – please contact the laboratory
- Blood: One 3-5 ml sodium heparin (green top) tube (minimum sample for newborn 1.5 ml)
CPT codes: 88230(x3), 88249(x2)
Pricing: Contact the laboratory billing staff for current costs
Required forms: Postnatal Test Request Form
Turn-around time: Results are typically available in 7-10 days
Additional links: Fanconi Anemia Test Procedure