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DiaPlexQ™ Avellino Corneal Dystrophy (ACD) Real-Time PCR Genotyping Kit (Corneal Dystrophy)
Model
Series
Molecular Diagnostic (Human Gentrifyping)
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Description
DiaPlexQ™ Avellino Corneal Dystrophy (ACD) Real-Time PCR Genotyping Kit
Real-Time PCR based assay system for the genotyping of the ACD gene SNP related to avellino corneal dystrophy
CE-IVD
ACD is a hereditary disease and one of the corneal dystrophies involving the formation of corneal opacities on different Layers of the corneal stroma, which leads to significant impairment of the corneal transparency and refraction. ACD is caused by the formation and deposition of abnormal hyaline protein which is generated by the replacement of histidine from arginine due to the mutation of cordon 124 (exon 4) in the βigh 3 gene. The deposited abnormal hyaline protein is usually known as kerato-epithelin and forms a granular, lattice precipitate causing visual impairment and might lead to blindness if it remains undiagnosed. Genetic mutation is highly accelerated after laser eye surgery in those people who have ACD, causing a worsening in vision rather than improvement after surgery. The awareness of ACD has developed across the world, with some opticians now refusing access to LASIK in patients with ACD due to the harmful effects the procedure has on patients.
Specification
| DiaPlexQ ™ Avellino Corneal Dystrophy (ACD) Real-Time PCR Genotyping Kit | ||
|---|---|---|
| Detection target | SNP of R124 (βigh3 coding gene codon 124, exon4) | |
| Registration | CE-IVD | |
| Detection technology | Real-Time PCR | |
| Specimen type | Blood, Buccal epithelial cell, Hair (root) | |
| Compatible instruments* | ABI 7500 / 7500 Fast Real-Time PCR System (Applied Biosystems) CFX96™ Real-Time PCR System (Bio-Rad) | |
| PCR running time | ~ 1hr 30 min | |
Features
- HotStart PCR system : Ultra high specific and sensitive result
- UDG system : No carryover contamination
- Multiplex PCR : Multiple targets in a single reaction
- Reliable system : Automatic Internal control ( DiaPlex C™)
- Positive control included
- Easy-to-use master mix
- CE certification
Experimental
| Color | Genotyping |
|---|---|
| ● Red | ACD G/G type |
| ● Blue | ACD A/A type |
| ● Green | ACD G/A type |
| ● Black | Non-Template Control |
Kocak-Atlintas AG, Kocak-Midillioglu I, Akarsu AN, Duman S. βigh gene analysis in the different diagnosis of corneal dystrophies. Cornea 2001; 20: 64-8. | Klintworth GK. Advances in the molecular genetics of corneal dystrophies. Am J phthalmol 1999; 128: 747-54. | Konishi M, Mashima Y, Nakamura Y, et al. Granular-lattice (Avellino) corneal dystrophy in Japanese patients. Cornea 1997; 16: 635-8. |
Ordering information
| Technology | Cat. No. | Product | Contents |
|---|---|---|---|
Real-Time PCR | SQH26-K020 (20 reaction) | DiaPlexQ ™ Avellino Corneal Dystrophy (ACD) Real-Time PCR Genotyping Kit | 2X Multiplex Real-Time PCR Smart mix (ACD) Primer & Probe Mixture (ACD) A/A type Control DNA (ACD) G/A type Control DNA (ACD) G/G type Control DNA (ACD) Nuclease free Water |
| SQH26-K100 (100 reaction) |