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DiaPlexC™ Avellino Corneal Dystrophy (ACD) Genotyping Kit (Corneal Dystrophy)

Model

Series

Molecular Diagnostic (Human Gentrifyping)


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Description

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 targetSNP of R124 (βigh3 coding gene codon 124, exon4)
RegistrationCE-IVD
Detection technologyConventional (End-point) Multiplex PCR
Specimen typeBlood, 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


LaneInterpretation (detection)
1ACD (G/G homozygote, normal)
2ACD (G/A heterozygote, mutant)
3ACD (A/A homozygote, mutant)
4Required 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

TechnologyCat. No.ProductContents



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)



Inquiry

Komachine Inc.
Head Office:
Ace Dongbaek Tower 1-1101, 16-4,
Dongbaekjungang-ro 16beon-gil, Giheung-gu,
Yongin City, Gyeonggido, South Korea 17015
Branch Office:
606, Seoul Stratup Center, 10,
Noryangjin-ro, Dongjak-gu, Seoul, South Korea 06938
CEOCharlie Park
Corporate #535-86-00664

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