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GTR Home > Tests > Fanconi Anemia , Panel Massive Sequencing (NGS) 15 Genes

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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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

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Imported from Human Phenotype Ontology (HPO)

  • Anemia
  • Cryptorchidism
  • Abnormal heart morphology
  • Male infertility
  • Leukemia
  • Microphthalmia
  • Pancytopenia
  • Strabismus
  • Thrombocytopenia
  • Cafe-au-lait spot
  • Horseshoe kidney
  • Small for gestational age
  • Ectopic kidney
  • Short stature
  • Bruising susceptibility
  • Short thumb
  • Renal agenesis
  • Neutropenia
  • Reticulocytopenia
  • Hypergonadotropic hypogonadism
  • Abnormality of skin pigmentation
  • Hearing impairment
  • Absent radius
  • Duplicated collecting system
  • Absent thumb
  • Complete duplication of thumb phalanx
  • Intellectual disability
  • Chromosomal breakage induced by crosslinking agents
  • Prolonged G2 phase of cell cycle
  • Deficient excision of UV-induced pyrimidine dimers in DNA
  • Anemic pallor
  • Microcephaly
  • Abnormal renal morphology
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Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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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