HELIX DIAGNOSTICS
Hereditary Hemochromatosis Targeted Test
Test Description
Helix Hereditary Hemochromatosis Targeted Test is a diagnostic test that analyzes three variants in HFE associated with hereditary hemochromatosis. The two variants C282Y (c.845G>A) and H63D (c.187C>G) are always reported, whereas the S65C (c.193A>T) variant will be reported only when it is observed as part of the C282Y/S65C genotype.
Genes Tested (1)
Important Test Information
Turnaround time: Typically 7-21 days (standard), Typically < 5 days (requery)
Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit
Shipping Instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
Hereditary hemochromatosis (HFE) is a metabolic condition that causes inappropriate iron absorption and progressive iron overload in multiple organs, particularly the liver, heart, and pancreas. If left untreated, iron overload can lead to cirrhosis, diabetes, cardiomyopathy, and arthropathy, but early detection and regular therapeutic phlebotomy can effectively prevent complications and restore normal life expectancy.
The variants reported in this test have been pre-evaluated according to American College of Medical Genetics and Genomics recommendations. Variants not included in the pre-evaluated list will not be reported.