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
Requery (SOQO)
≤ 5 days
Genes Tested
1
Panel 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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Contact our clinical team to order this panel or learn more.
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 notes
HFE: analysis is limited to NM_000410.4:c.845G>A (p.Cys282Tyr), c.187C>G (p.His63Asp)
Genomic build
GRCh38
Genes Tested
1 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 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.
Clinical 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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Contact our clinical team to order the Hereditary Hemochromatosis Targeted Test for your patients.