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  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
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HFE2

Alias

HFE2A; HJV; JH; RGMC

Associated disorders

The HFE2 gene is associated with autosomal recessive hemochromatosis type 2A (aka juvenile hemochromatosis) (MedGen UID: 356321).

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HFE2

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Invitae tests that include this gene:

An estimated 90% of hemochromatosis type 2 is caused by pathogenic variants identified in HFE2 (HFE2A). The percentage of hemochromatosis attributed to pathogenic variants identified in HFE2 is rare.

The HFE2 gene encodes the hemojuvelin protein, which is involved in iron metabolism and may be involved in the expression pathway of hepcidin.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
HFE2 NM_213653.3