Hemochromatosis, Type 1 (HFE) Targeted Testing

Short Name: HFE Targeted

Hemochromatosis is an autosomal recessive condition caused by pathogenic variants in the HFE gene. The condition causes the body to accumulate excess iron which is then deposited in a variety of organs leading to their failure and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects typically do not appear for decades. The pathogenic variants c.187C>G (p.His63Asp) and c.845G>A (p.Cys282Tyr) have been identified in the Amish and are specifically analyzed in this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 235200
MedGen: 854011