Chromosome Breakage for Fanconi Anemia

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.

Additional tests available on postnatal samples (refer to additional pages for details):

Postnatal FISH including Aneuploidy FISH and/or Constitutional (Targeted) FISH
180K Microarray for Congenital Anomalies/DD/Autism
UPD Array
Single gene testing – refer to Test Catalog for tests offered at HGL

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

Shipping & Handling

Required forms: Postnatal Test Request Form

Turn-around time: Results are typically available in 7-10 days

revised: 7-9-12