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GTR Home > Tests > Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication

Indication

This is a clinical test intended for Help: Predictive, Prognostic

Clinical summary

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Imported from OMIM

Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Anemia
  • Hepatomegaly
  • Leukopenia
  • Splenomegaly
  • Thrombocytopenia
  • Recurrent infections
  • Chronic diarrhea
  • Enlarged kidney
  • Global developmental delay
  • Neutropenia
  • Failure to thrive
  • Extramedullary hematopoiesis
  • Increased circulating antibody level
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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

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