The diagnosis is confirmed by a specific blood test (chromosomal fragility). In a few cases, this test does not provide meaningful results, making it necessary to examine a skin biopsy. Using these methods, Fanconi anemia can be reliably diagnosed or ruled out. If the test is positive, a gene analysis often follows.
This examination should be conducted whenever someone has unexplained bone marrow failure. Furthermore, it makes sense to perform this examination on young adults with Fanconi-like cancers (tumors in the mouth or ENT region, vulvar tumors). Typical malformations may lead a doctor to initiate Fanconi anemia diagnostics as well. Since this is a rare disease, not all doctors are familiar with Fanconi anemia.