Genvinset® HFE multiplex

Hereditary hemochromatosis (HH) is an inherited autosomal recessive disorder of iron metabolism.

Most HH cases (52-96%) in the European regions are associated with a homozygous mutation at position 845 (G—›A) in exon 4 of the HFE gene (rs1800562), which results in an amino acid change at position 282 from cysteine to tyrosine (C282Y). A second mutation that is frequently detected occurs at position 187 (C—›G) in exon 2 of the HFE gene (rs1799945), wherein the amino acid histidine is replaced by aspartic acid at position 63 (H63D). The contribution of this allele to iron overload is most relevant in the case of combined heterozygosity with allele C282Y (C282Y/H63D).

INTENDED USE

Genvinset® HFE multiplex is a semi-automated in vitro diagnostic kit qualitative detection of the C282Y mutation (NCBI dbSNP rs1800562; NM_000410.4:c.845G>A) and H63D mutation (NCBI dbSNP rs1799945; NM_000410.4:c.187C>G) associated with hereditary hemochromatosis, in the HFE gene (OMIM: 613609) in genomic DNA extracted from whole blood using Real-Time PCR technology with specific TaqMan® probes.

The patient referred by the corresponding health specialist (haematologist) and taking into account the compatibility of the symptoms presented; joint pain, abdominal pain, fatigue, weakness, heart failure, liver failure, bronze-coloured skin, and/or his family history (for example, a direct ascendant diagnosed with hereditary hemochromatosis) may be subject to the determination of mutations in the HFE gene. The results of this test should not be the only ones on which the therapeutic decision is based and should be used as an aid in the diagnosis together with results of other markers of the disease.

The intended user of the kit is technical personnel trained to carry out the protocol and the interpretation of results described in this document.

WORKFLOW

RESULTS

Heterozygous H63D and C282Y sample:

Homozygous mutant H63D and homozygous wild-type C282Y sample:

Homozygous wild-type H63D and heterozygous C282Y sample:

Homozygous wild-type H63D and homozygous mutant C282Y sample:

Limitations

• Mutations or polymorphisms at annealing primer/probe sites are possible and may result in the lack of allele definition. Other technologies could be necessary to resolve the genotyping.
• Data and result interpretation should be revised by qualified personnel.
• This product is an auxiliary tool for the diagnosis of patients with suspected hereditary hemochromatosis. Use these results in conjunction with clinical data and results of other tests performed on the patient.