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HELIX DIAGNOSTICS

Hereditary Hemochromatosis Test

Test Description

Coming Soon in June 2025

Genes Tested (3)

HFE c.845G>A (p.Cys282Tyr)
HFE c.187C>G (p.His63Asp)
HFE c.193A>T (p.Ser65Cys)

Important Test Information

Turnaround time: 7-24 days

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.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity; however, this test only reports pathogenic and likely pathogenic variants along with interpretive comments detailing the evidence applied towards classification. Variants of uncertain significance are not reported.

Other Tests to Consider

Family Variant Testing