For in vitro diagnostic use. Others LightMix in-vitro diagnostics kit HFE H63D S65C C282Y IVD LightMix® in-vitro diagnostics kit HFE H63D S65C C282Y 100 1377683945183 This product is not a Roche product, Roche Global Customer Support is not offering any Support. For any additional information and support please ONLY contact TIB MolBiol directly. Furthermore we can not guarantee that all available information for this product is up to date. TIBMOLBIOL-0049 Detection of the HFE gene DNA variations encoding for p.H63D, p.S65C and p.C282Y in extracted DNA from peripheral bloodfor use with the Roche Diagnostics LightCycler® Instruments 05 945 798 001 5 945 798 001 05945798001 5945798001 05945798001 LightMix HFE H63D S65C C282Y LightMix HFE H63D S65C C282Y 04260159331073 Reagents, kits 40-0340-32 96 reactions Not Available false This kit allows to detect common mutations in the HFE gene (OMIM: 235200) in genomic human DNA from nucleic acid extracts obtained from peripheral blood. Hemochromatosis type 1 (HFE1) is hereditary and linked to various mutations in the HFE gene. Hemochromatosis results in multi-organ dysfunction caused by increased iron deposition. This product is intended to help clinicians to analyze the genetical background of patients with hepatopathy of unknown etiology, patients with liver cirrhosis, diabetes mellitus, bronze skin pigmentation in connection with elevated serum iron concentrations, elevated transferrin saturation and elevated serum ferritin levels. The present test can be performed in addition or after a biochemical assay for iron overload using transferrin saturation. Results obtained using this kit are not intended to be the only basis for any therapy decision. The patient´s mutation status should be considered alongside other disease factors. Note: The performance of the assay can be guaranteed only when used with Roche LightCycler® Instruments or cobas® z 480 Analyzer. The present product is an in-vitro diagnostic device, which must be used by qualified personnel only. en Using PCR methodology, two fragments of the HFE gene are amplified simulta-neously with specific oligonucleotide primers. Fluorescent labeled probes are used to identify the PCR product and to determine the genotype by performing a melting curve analysis.The probe binds to a part of the amplified fragment spanning the mutation site. Any mismatch covered by the probe destabilizes the hybrid. During the melting curve analysis the temperature is slowly increased. The probe melts off at a specific melting temperatures causing the fluorescence to decrease.Exon 4 : Variant p.C282YA 284 bp long PCR fragment containing the c.845G>A (C282Y) polymorphism is analized using a LightCycler® Red 640 red oligomer matching the mutant 282Y allele. In the melting curve analysis the 282Y samples display a higher temperature than the wild type C282 allele.Other variants, eg. 281M or 283P yield different melting temperatures (see 7.8).Exon 2: Variants p.H63D and p.S65CA 163 bp long PCR fragment containing the c.187C>G (63 H/D) and c.193A>T (65 S/C) polymorphisms is analized using a SimpleProbe® 519 oligomer which matches the mutant 63D allele. The probe binds to a part of the amplified frag-ment starting from amino acid 58 Phe and passing beyond the mutation sites.In the melting curve analysis the 63D samples display a higher temperature than the wild type allele 63H, while the 65C samples have the lowest melting temperature. Other variants yield different melting temperatures (more information described in the method sheet).Reading of the genotype results is based on the melting temperatures compared to the supplied standards. If permitted by the instrument software reading of the genotype results can be achieved by the automated genotyping (instrument-dependent: software module 'Melt Curve Genotyping').Automated genotyping results must be reviewed by eye for deviating curves and different melting point temperatures. In case that automated typing fails to report consistent genotype results, the genotype must be deducted from the melting temperatures following the criteria described in the method sheet.Automated genotyping might fail in case that the supplied standards generate much higher signals than average patient samples. It is allowed to use known (pre-typed) clinical DNA samples as references for teaching the genotypes.See also method sheet for melting temperatures expected for other variants.The kit contains DNA standards encoding for the 282 C/Y, 63 H/D and 65 S/C variants to enable a comparison with clinical samples. en

LightMix^® in-vitro diagnostics kit HFE H63D S65C C282Y CE-IVD

Detection of the HFE gene DNA variations encoding for p.H63D, p.S65C and p.C282Y in extracted DNA from peripheral blood
for use with the Roche Diagnostics LightCycler^® Instruments

IVD

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LightMix^® in-vitro diagnostics kit HFE H63D S65C C282Y CE-IVD