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GTR Home > Tests > Aplastic Anemia Panel


This is a clinical test intended for Help: Diagnosis

Clinical summary


Imported from GeneReviews

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.

Clinical features


Imported from Human Phenotype Ontology (HPO)

  • Anal atresia
  • Fetal growth restriction
  • Acute myeloid leukemia
  • Cafe-au-lait spot
  • Short stature
  • Short thumb
  • Bone marrow hypocellularity
  • T-cell acute lymphoblastic leukemias
  • Failure to thrive
  • Chromosomal breakage induced by crosslinking agents
  • Microcephaly
Show all

Inheritance pattern


Autosomal recessive inheritance

Conditions tested

Target population


Not provided

Clinical validity


Not provided

Clinical utility


Not provided

Suggested reading

  • Link text is missing.
    Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

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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