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GTR Home > Tests > Bone Fragility and Fracture Panel

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Clinical summary

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Imported from GeneReviews

Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): characterized by pulmonary insufficiency and hypercalcemia. Perinatal (benign): prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile: onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity. Severe childhood (juvenile): variable presenting features progressing to rickets. Mild childhood: low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots. Adult: characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia: characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Carious teeth
  • Recurrent fractures
  • Pathologic fracture
  • Arthropathy
  • Osteomalacia
  • Rickets
  • Premature loss of primary teeth
  • Chondrocalcinosis
  • Increased susceptibility to fractures
  • Low alkaline phosphatase
  • Premature loss of permanent teeth
  • Abnormal foot morphology
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Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Candidates for this test include patients with a clinical presentation of osteogenesis imperfecta, hypophosphatasia, inherited hypophosphatemic rickets, sclerosing bone dysplasias, osteopetrosis, signs of weakened bone, and bone fracture.

Citations

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Clinical validity

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Not provided

Clinical utility

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Not provided

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