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GTR Home > Tests > SLX4

Indication

This is a clinical test intended for Help: Screening

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
  • Blepharophimosis
  • Squamous cell carcinoma
  • Cryptorchidism
  • Micrognathia
  • Pancytopenia
  • Vitiligo
  • Pelvic kidney
  • Cafe-au-lait spot
  • Horseshoe kidney
  • Bulbous nose
  • Short stature
  • Short palpebral fissure
  • Short thumb
  • Growth delay
  • Hypoplasia of the radius
  • Hearing impairment
  • Absent thumb
  • Chromosomal breakage induced by crosslinking agents
  • Microcephaly
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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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