Hereditary Hemochromatosis Targeted Test
A targeted diagnostic test analyzing two specific variants in HFE associated with hereditary hemochromatosis, powered by the Helix Exome+® platform.
6-21 days
≤ 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.
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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
> 99%
> 99%
HFE: analysis is limited to NM_000410.4:c.845G>A (p.Cys282Tyr), c.187C>G (p.His63Asp)
GRCh38
Genes Tested
Showing 1 of 1 genes in this panel