Background:

Fanconi Anemia (FA) is characterized by bone marrow failure, increased risk for cancer, and physical abnormalities. Progressive bone marrow failure is responsible for the most significant morbidity and mortality.  Clinically heterogeneous, FA individuals are at increased risk for acute myelogenous leukemia, myelodysplasia, and solid tumors of the neck, head, oral cavities, and gynecological system.  Congenital abnormalities are present in approximately 70% of FA patients and include: café au lait spots or hypopigmentation; short stature; radial ray defects; eye defects such as microphthalmia; malformations of the kidney, genitalia, heart, gastrointestinal tract, ears, and feet.  Currently, 15 genes have been identified that, when mutated, can cause FA.  Fanconi complementation group E gene, or FANCE, is inherited in an autosomal recessive manner.  Mutations (Missense, nonsense as well as splice sites) in FANCE are responsible for approximately 2.5% of all FA cases.

Reasons for Referral:

  • Confirmation of clinical diagnosis in patients with classical or atypical FANCE.
  • Carrier testing of family members of FANCE patients with known mutations.
  • Prenatal diagnosis.

Note: Prior to submitting a sample for FANCE molecular testing, cytogenetic confirmation of Fanconi anemia, by breakage analysis, is recommended and is available in the Knight Diagnostic Laboratories.

For breakage analysis please contact Client Services at (855) 535-1522 to obtain the correct requisition form to accompany the specimen.

Additionally, prior to molecular testing, complementation typing (complementation group assignment) is strongly recommended.  Complementation typing is available at a CLIA certified laboratory at the following URL address: http://www.cincinnatichildrens.org/service/d/diagnostic-labs/cytogenetics/fanconi-anemia/

Please attach the complementation group assignment documentation to the molecular testing requisition form, if possible.

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated. 

Methodology:

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