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GTR Home > Tests > Seckel syndrome panel. 6-gene NGS panel.

Indication

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

Clinical summary

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Imported from OMIM

Patients with this syndrome develop cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well (Tanaka et al., 2012).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Alopecia
  • Carious teeth
  • Enamel hypoplasia
  • Actinic keratosis
  • Telangiectasia
  • Onychomycosis
  • Onycholysis
  • Nail dystrophy
  • Convex nasal ridge
  • Oropharyngeal squamous cell carcinoma
  • Livedo
  • Ridged nail
  • Breast carcinoma
  • Facial telangiectasia
  • Yellow nails
  • Conical incisor
  • Sparse lateral eyebrow
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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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