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GTR Home > Tests > Fanconi Anemia Panel


Test name


Fanconi Anemia Panel

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening



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Click Indication tab for more information.

How to order


•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Isolated DNA
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

  • 1. Khincha, P.P. and S.A. Savage, Genomic characterization of the inherited bone marrow failure syndromes. Semin Hematol, 2013. 50(4): p. 333-47. 2. Chirnomas, S.D. and G.M. Kupfer, The inherited bone marrow failure syndromes. Pediatr Clin North Am, 2013. 60(6): p. 1291-310. 3. Hirsch, B., et al., Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood, 2004. 103(7): p. 2554-9. 4. Wagner, J.E., et al., Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. Blood, 2004. 103(8): p. 3226-9. 5. Martin, A.M., et al., Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic. J Clin Oncol, 2001. 19(8): p. 2247-53. 6. Levitus, M., et al., The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet, 2005. 37(9): p. 934-5. 7. Seal, S., et al., Truncating mutations in the Fanconi

Clinical validity


Not provided

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Suggested reading

Practice guidelines

  • FARF, 2020
    Fanconi Anemia Clinical Care Guidelines, Fifth Edition.
  • FARF, 2008
    Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management, 2008 (See 2020 Update)

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