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GTR Home > Tests > Aplastic Anemia Panel

Aplastic Anemia Panel

  • GTR Test IDHelp: GTR000569583.1
  • Last updated: 2023-10-13
  • Test version history

Clinical testHelp for Fanconi anemia complementation group D1
Offered by CNH Molecular Diagnostics Laboratory

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
  • 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
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Inheritance pattern

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Autosomal recessive inheritance

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

Reviews

Suggested reading

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

Clinical resources

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)

Molecular resources

Consumer resources

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