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Hereditary Hemochromatosis Targeted Test

A targeted diagnostic test analyzing two specific variants in HFE associated with hereditary hemochromatosis, powered by the Helix Exome+® platform.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

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.

View a complete description of this test
Sample negative report

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

A relevant personal and/or family history suggestive of hereditary hemochromatosis.

Methodology

This test utilizes next-generation sequencing to detect single nucleotide variants.

Technical Specifications

Analytical sensitivity (SNV)> 99%Analytical specificity> 99%Gene notesHFE: analysis is limited to NM_000410.4:c.845G>A (p.Cys282Tyr), c.187C>G (p.His63Asp)Genomic buildGRCh38

Genes Tested

HFE

Showing 1 of 1 genes in this panel

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Family Variant Testing

242

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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.