Detection method: allelic discrimination
This in vitro diagnostic kit is intended for detection of mutations PI*S and PI*Z in the alpha 1 antitrypsin gene in human genomic DNA. Detection is based on real-time polymerase chain reaction (qPCR) using fluorescently labelled probes (allelic discrimination).
Alpha-1-antitrypsin (A1AT) is one of the serine protease inhibitors (SERPIN) which serves as an inhibitor of neutrofile elastase in lungs. The mutations in the A1AT gene lead to changes in
the protein structure and loss of function. Alpha-1-antitrypsin deficiency is associated with lung diseases such as chronic obstructive pulmonary disease (COPD).
The main risk factors for COPD are smoking, dusty work or repeated respiratory infections. A1AT deficiency can cause liver disease (hepatitis, cirrhosis) in both, neonates and adults. The most frequent mutations which cause a deficiency in alpha-1-antitrypsin are PI*S and PI*Z. Mutation PI*S is caused by substitution of E264V and makes a gradual reduction in protein levels. Mutation PI*Z is caused by substitution of E342K and makes a significant A1AT level reduction in blood serum.
| Cat. No. | Product | No. of reactions | Price |
|---|
| 3251-025 | gb GENETIC A1AT | 25 |
Add to Quote Add to Quote |
| 3251-050 | gb GENETIC A1AT | 50 |
Add to Quote Add to Quote |
1 CE IVD real-time PCR kit contains reagents to provide 25 or 50 PCR reactions (20 μl volume of each reaction).
Shiping on dry ice from
€ 110 (EU)
For other destinations see
indicative list.
General Terms and Conditions
Validated for:
ABI 7500/7500 Fast (ABI)
CFX96/96Touch (Bio-Rad)
Light Cycler 480/Cobas z480 (Roche Diagnostics)
MIC (BMS)
QuantStudio 5 (Applied Biosystems)
RG 3000 (Corbett Research)
RG 6000/Q (Corbett Research/Qiagen)
Dual-labeled hydrolysis probes The technology of dual-labeled hydrolysis probes (also called TaqMan® real-time PCR probes) exploits the 5 ́-3 ́ exonuclease activity of Taq DNA polymerase to cleave the probe. TaqMan real-time PCR probes are labeled with a fluorescent dye (reporter) at the 5´ end and with a quencher at the 3´ end.
Why choose alternative dyes instead of "genuine" dyes? First, they are cheaper, and second, they can give the same results. Another reason is that the number of suppliers who can provide modified oligonucleotides is restricted - only a patent or a licence owner is usually allowed to produce them.
Your request has been sent.
Dispatch date
Products are dispatched within 10 business days upon receiving the order
Shipping
On ice/dry ice
Recommended storage
Storage at -20 °C
Expiry date
Product remains stable until expiry date stated on the product label (min. 6 months after delivery)
This product has not been validated for your cycler?
Send us the type of your cycler and we will find a solution for you.
Your request has been sent.
Thank you for your interest in our testing services. We will reply to your e-mail address as soon as possible.
Thank you for your inquiry
Thank you for your inquiry
Your registration has been sent.
Thank you for your inquiry
Price will be calculated based on your exact location within 2 working days.
ENG 
CZE 
