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GTR Home > Tests > D-lactic aciduria with susceptibility to gout: Full gene sequencing

Indication

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

Clinical summary

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Imported from OMIM

D-lactic aciduria is characterized by elevated D-lactate in plasma and urine. Patients show elevated serum uric acid concentrations and low urinary uric acid levels, due to reduced renal clearance of uric acid, and affected adults may experience episodes of gouty arthropathy (Drabkin et al., 2019). For a discussion of genetic heterogeneity of serum uric acid concentration quantitative trait loci, see UAQTL1 (138900).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Congenital aniridia
  • Inguinal hernia
  • Downslanted palpebral fissures
  • Intellectual disability
  • Lacticaciduria
  • Microcephaly
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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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