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GTR Home > Tests > Amelogenesis imperfecta and dentinogenesis imperfecta panel. NGS panel of 15 genes.

Indication

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

Clinical summary

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Imported from OMIM

Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Amelogenesis imperfecta
  • Enamel hypoplasia
  • Anterior open-bite malocclusion
  • Abnormal dentin morphology

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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