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GTR Home > Tests > BEST1 Sequence Analysis (Prenatal Diagnosis)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene. [from MONDO]

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Night blindness
  • Retinal detachment
  • Reduced visual acuity
  • Retinal flecks
  • Abnormal electroretinogram
  • Optic disc pallor
  • Attenuation of retinal blood vessels
  • Rod-cone dystrophy
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Conditions tested

Target population

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Pregnancies at-risk for familial mutations

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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