Genetic deafness gene mutation detection kit (PCR-reverse dot hybridization)
Genetic deafness gene mutation detection kit (PCR-reverse dot hybridization)

Genetic deafness gene mutat≥™ε©ion detection kit (PCR-reverse dot hybrid¥•↑ization)

Clinical background

  There are about 27.8 ✘&;million people with hearing disa→"∞bilities in China, account♣₽ing for 33%of the total number of pλ§↕eople with disabilities, and th•¶±e proportion of newborndeafness is about ∞↕₩®;1-3%. More than 30,000 ne★✔δw deaf children are born $ each year, with more tha₩≤↕γn 60%of the genetic factor£₽s causing 3 deafness ≈​∏. Environmental factors (about ↕<20%),unknown factors (about&nφ ♠σbsp;20%),in the normalpopulation, deaf gene'↓≈ mutation carriers more tha♠≤±n 80 million ≠↕↔people. A large number of patients w​ ith late hearing loss are d♣↓‌eaf engenedeaf by the←‍★ ir own genetic defects,∏Ω or by genetic defects and polymorphism, resulti'α☆♠ng in sensitivity to deafening e♥σnvironmental factors, and thus diφ&sease-causing. The traditional β∏♦αdetection method can not detλλ→↑ect the deafness caused by late deafne>‍ss or gene mutation in time, '→β✘and the testing of deafness can pl€‍σay the effect of early diagnσφ♥&osis, early detection and early inter§≤≤•vention.

Product advantages
More comprehensive detec‍'‌$tion coverage:selecting 20 gene mutatio≈≥♦ n sites with high incidence ‌  of Chinese group, is currentlythe most re♦φ♣♣gistered product in china, with 4 genes<​★(GJB2,、GJB3,、SLC26A4,、mtDNA))20 deaf gene δ "∏mutation sites (35delG、167delT、176-191del16、23₽>5delC、299-300delAT、538C>T、547G>A、1494C>©‍$T、1555A>G、2168A>G、IVS7-λ$±Ω2A>G、281C>T、589G>A、÷&1174A>T、1226G>A、1229C>T、IVS1>€5+5G>A、1975G>C、2027T>A、‍♣‌♠2162C>T);

High sensitivity:the detection limit of the genomic DNA of tα←he examinee is 2ng / μL δ‍★;

High accuracy: verified by 5000 multi-center clinical σβφsamples, the conformi≥‌ ty rate with sequencing is 100%;


High resolution:It can detect heterozygous and homozygous mut♦£↕↑ations at the same time, with strong hybridi→≥zation signal and weak non→φδ-specific signal. Common controlsαβ are set at common sites for heterozygou₩↔εΩs / homozygous discrimination to red ÷uce missed detections;
Easy to use: the naked eye can directly interpret ±γ​Ωthe results, stable and reliable;
High cost performance:® < no need for expensive special equ©♦ipment.

Authoritative institu←÷σtion clinical verification:



Application areas and the signifi ≈cance of genetic testin∞Ω±g

Obstetrics, Neonatal

Gynecologic

Otolaryngology ≠←

Internal Medicine, Surgery ∑≈

Neonatal

Pre-pregnancy, early pr÷§♠egnancy women

Hearing-impaired patients and their™Ω★‍ families

Users of amino glycoside drugs ♣™∞

Early detection of congenital dφ eafness, 

late-onstage deafness and drug deafness,±‍♥₹ 

early diagnosi→★s, early prevention, early intervention £→±

Screening carriers©‍σ of deaf engene 

mutations to provide genetic counselling&nb↔♣<™sp;

and guidance for birth defec₽∑ ts

Hearing-impaired family marriage guidance ☆δ←

 and medicatioα≈‌n guidance, prediction of 

cochlear implant effect

Guidance on the use of antibiotics in ☆¥¶→;

aminoglycoside drugs to pr±‌₽event drug deafness

Process schematics
Results interpretation schema××tic

Normal (N/N)

35N●

176N●

235N●

299N●

538N●

1494N●

1555N●

IVS7-2N●

1226/1229N●

2162/2168N●

Number

35M

176M

235M

299M

538M

1494M

1555M

IVS7-2M

1226M

2168M

167M

281M

589M

IVS15+5M

547M

1975M

2027M

1174M

1229M

2162M


Single-mutation pure ↓×hejuno(IVS7-2M)

35N●

176N●

235N●

299N●

538N●

1494N●

1555N●

IVS7-2N

1226/1229N●

2162/2168N●

Number

35M

176M

235M

299M

538M

1494M

1555M

IVS7-2M●

1226M

2168M

167M

281M

589M

IVS15+5M

547M

1975M

2027M

1174M

1229M

2162M


Single Mutant Heoco(35M/N)

35N●

176N●

235N●

299N●

538N●

1494N●

1555N●

IVS7-2N●

1226/1229N●

2162/2168N●

Number

35M●

176M

235M

299M

538M

1494M

1555M

IVS7-2M

1226M

2168M

167M

281M

589M

IVS15+5M

547M

1975M

2027M

1174M

1229M

2162M


Product information

Test specimen: Anticoagulant whole ≈><δblood sample

Technical principle:PCR - reve ≠←rse point hybridization

Packing size:25 test / kit

Class: In vitro diagnostic ®‍♠"reagents

Applicable instrumen♥"¶δts: common gene amplification✘& instrument, molecular hybridizer>♥