REALQUALITY RQ-HEMO S65C

Description

The REALQUALITY RQ-HEMO S65C is an IVD for detection and genotyping of the S65C mutation in the human HFE gene by Real-Time PCR.

Product Characteristics

• The device is validated on DNA extracted from various samples types
• The assay requires only 1 µL of DNA extracted
• The assay uses a Biosearch Technologies patented technology for human molecular diagnostic use
• Validated on main Real-Time PCR instruments
• The assay includes dUTP/UNG system for preventing carry-over contamination and a fluorescence normalizer.
• The automatic format of the assay can be used with GENEQUALITY^® platform

Kit content

The kit includes:

• Ready-to-use reagents for Real-time PCR amplification
• Homozygous and heterozygous positive controls
• Fluorescence normalizer

Further Information

Hemochromatosis is an autosomal recessive disorder of the iron metabolism that affects approximately 0.2 – 0.5 % of the Caucasian population. It is characterized by an excessive accumulation of iron in the body, which is caused by an increased absorption of dietary iron by the intestinal mucosa.
The mutations in the HFE gene cause the disorder. The HFE gene is located on the short arm of chromosome 6, close to the HLA-A locus. Certain mutations in this gene lead to the synthesis of an altered protein, which is unable to interact with transferrin receptors, which in turn forces the transport of iron through the intestinal mucosa.
The two most frequent mutations found in the HFE gene are the C282Y mutation (substitution of a cysteine by a tyrosine in position 282 of the protein) and the H63D mutation (substitution of the histidine by aspartic acid in position 63 of the protein).
A third type of mutation, S65C (substitution of serine with a cysteine in position 65 of the protein), is found in significantly fewer patients and its clinical relevance is not yet completely clear. Initially, this polymorphism was assumed to have no clinical effect. Later research showed that it is associated with a less severe form of hemochromatosis, which mainly occurs in double heterozygous (C282Y/H65C and H63D/S65C) individuals.
To confirm the diagnosis, molecular analysis of blood samples by methods of DNA amplification and/or sequencing is required. Fortunately, a plain sample of venous blood is sufficient for the genetic analysis.

Ordering Information