GTR Home > Tests > Hearing Loss NGS Panel

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. [from ORDO]

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Cerebellar ataxia
  • Dysarthria
  • Sensorineural hearing impairment
  • Spasticity
  • Nystagmus
  • Optic atrophy
  • Babinski sign
  • Cataract
  • Hyperreflexia
  • Dysmetria
  • Subcapsular cataract
  • Demyelinating peripheral neuropathy
  • Achilles tendon contracture
  • Hyporeflexia
  • Pes cavus
  • Cerebellar atrophy
  • Sensorimotor neuropathy
  • Distal sensory impairment
  • Distal amyotrophy
  • Decreased nerve conduction velocity
  • Intention tremor
  • Rod-cone dystrophy
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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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