For in vitro diagnostic use. Others LightMix in-vitro diagnostics kit Alpha1-Antitrypsin AAT Pi S and Pi Z CE-IVD IVD LightMix® in-vitro diagnostics kit Alpha1-Antitrypsin (AAT) Pi*S and Pi*Z CE-IVD 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-0164 Detection of the Pi*S and Pi*Z DNA variations in the AAT genefor use with the Roche Diagnostics LightCycler® Instruments 07 055 684 001 7 055 684 001 07055684001 7055684001 07055684001 LightMix AAT (PiS, PiZ) LightMix AAT (PiS, PiZ) 04260159331912 Reagents, kits 40-0576-64 64 reactions Not Available false This kit allows the detection of mutations in codons 264 (Pi*S) and 342 (Pi*Z) in the Alpha-Antitrypsin (AAT) gene, also known as Protease Inhibitor I (Pi) (OMIM 107400) in genomic human DNA from a nucleic acid extract obtained from peripheral blood. AAT-deficiency is linked in particular to mutations in codons 264 and 342. Other SNP variants detected with this kit are not known to be associated with AAT-deficiency. This kit gives an indication on the presence of a deletion of the AAT gene (Pi*00). This kit is intended to help the clinician to analyze the genetical background for the risk of chronic obstructive pulmonary disease (COPD), Emphysema, and liver cirrhosis. The present test can be performed in addition or after a biochemical assay measuring AAT serum levels. Results obtained using this kit are not intended to be the only basis for any therapy decision. Patient´s mutation status should be considered alongside other disease factors. Note: The performance of the assay can be guaranteed only when used with LightCycler® Instruments (see 1.3.2 for details). 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 AAT gene are simultaneously amplified 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.Pi*Z allele (p.E342K)A 229 bp long PCR fragment containing the G11940A (rs28929474) site is analyzed using a LightCycler® Red 640 labeled SimpleProbe® oligomer which is matching the rare 11937A variant (SNP rs143370956). In the melting curve analysis the 11937A samples display a higher temperature than the wild type allele, while the Pi*Z risk allele 11940A has the lowest melting temperature. Other variants yield intermediate melting temperatures (for more information described in the method sheet see 7.6).Pi*S allele (p.E264V)The second PCR product has a length of 177 bases and includes the T9628A (rs17580) polymorphic site and is analyzed with a 519 labeled SimpleProbe® oligomer identical to the 9628A allele, resulting in a high melting temperature for the Pi*S variant and a lower melting temperature for the wild type allele.Pi*00 allele (gene deletion)In case of a AAT gene deletion there will be no melting peaks visible, but the result can not be distinguished from missing or low amount of sample DNA or inhibition of amplification or other PCR failures. For samples reporting no melting peaks the test should be repeated and verified with a second method. 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 intermediate 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 chapter 7. See also method sheet section 7.6 for melting temperatures expected for other variants.The kit contains DNA standards for the Pi*S, Pi*Z and the wild type alleles to enable a comparison with clinical samples. en

LightMix^® in-vitro diagnostics kit Alpha1-Antitrypsin (AAT) Pi*S and Pi*Z CE-IVD

Detection of the Pi*S and Pi*Z DNA variations in the AAT gene
for use with the Roche Diagnostics LightCycler^® Instruments

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LightMix^® in-vitro diagnostics kit Alpha1-Antitrypsin (AAT) PiS and PiZ CE-IVD

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