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HFE gene mutation; HFE genotyping

Indications: - diagnosis of hemochromatosis Contraindications: - HFE genotyping for patients who don't have iron overload or a family history of HFE-associated hereditary hemochromatosis [2] Clinical significance: - defects in HFE are associated with a) hereditary hemochromatosis b) porphyria cutanea tarda c) variegate porphyria d) susceptibility to diabetic nephropathy

Related

hemochromatosis

Specific

HFE gene p.C282Y HFE gene p.G845A HFE gene p.H63D HFE gene p.S65C

General

gene mutation testing; gene mutation analysis

References

  1. Panel of 5 tests Laboratory Test Directory ARUP: 55656
  2. ACGM News. July 10, 2015 ACMG Provides Recommendations on Genetic Testing Through the Choosing WiselyCampaign. https://www.acmg.net/docs/ACMG_ChoosingWisely_Final.pdf