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GTR Home > Tests > Deafness, autosomal dominant: Full gene sequencing panel

Deafness, autosomal dominant: Full gene sequencing panel

  • GTR Test IDHelp: GTR000568039.1
  • Last updated: 2022-12-05
  • Test version history

Clinical testHelp for Hearing loss, autosomal dominant 34, with or without inflammation
Offered by CEN4GEN Institute for Genomics and Molecular Diagnostics

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Risk Assessment

Clinical summary

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Imported from OMIM

DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see 147679) may be effective if started early (summary by Nakanishi et al., 2017).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Arthralgia
  • Arthritis
  • Conjunctivitis
  • Fever
  • Periodic fever
  • Headache
  • Urticaria
  • Lymphadenopathy
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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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