DiaPlexQ™ Novel Coronavirus (2019-nCoV) Detection Kit, Covid19, Corona virus
DiaPlexC™ Avellino Corneal Dystrophy (ACD) Genotyping Kit
Multiplex allele-specific 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
| DiaPlexC™ Avellino Corneal Dystrophy (ACD) PCR Genotyping Kit | ||
|---|---|---|
| Detection target | SNP of R124 (βigh3 coding gene codon 124, exon4) | |
| Registration | CE-IVD | |
| Detection technology | Conventional (End-point) Multiplex PCR | |
| Specimen type | Blood, Buccal epithelial cell, Hair (root) | |
| Compatible instruments* | ABI Veriti thermal Cycler (Applied Biosystems) recommended | |
| 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
| Lane | Interpretation (detection) |
|---|---|
| 1 | ACD (G/G homozygote, normal) |
| 2 | ACD (G/A heterozygote, mutant) |
| 3 | ACD (A/A homozygote, mutant) |
| 4 | Required re-experiment |
Citation&Papers
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 |
|---|---|---|---|
Conventional (End-point) PCR | SHG06-K020 (20 reaction) | DiaPlexC™ Avellino Corneal Dystrophy (ACD) Genotyping Kit | 2X Multiplex PCR Smart mix (with UDG) (ACD) Primer Mixture (ACD) Standard Marker (ACD) Wild type Control (ACD) Mutant type Control (ACD) Nuclease free Water |
| SHG06-K100 (100 reaction) |
