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GTR Home > Tests > Fanconi anemia, complementation group O, 613390, Autosomal recessive; FANCO (Fanconi anemia) (RAD51C gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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)

  • Anal atresia
  • Cryptorchidism
  • Abnormal heart morphology
  • Hydronephrosis
  • Short stature
  • Chromosome breakage
  • Short thumb
  • Rectal atresia
  • Hypoplasia of the radius
  • Small thenar eminence
  • External genital hypoplasia
  • Proximal placement of thumb
  • Stage 5 chronic kidney disease
  • Absent thumb
  • Renal cyst
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Conditions tested

Target population

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Fanconi anemia, complementation group O, 613390, Autosomal recessive; FANCO (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

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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