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

Clinical background

There are about 27.8 million people with hearing disabilities in China, accounting for 33%of the total number of people with disabilities, and the proportion of newborndeafness is about 1-3%. More than 30,000 new deaf children are born each year, with more than 60%of the genetic factors causing 3 deafness. Environmental factors (about 20%),unknown factors (about 20%),in the normalpopulation, deaf gene mutation carriers more than 80 million people. A large number of patients with late hearing loss are deaf engenedeaf by their own genetic defects, or by genetic defects and polymorphism, resulting in sensitivity to deafening environmental factors, and thus disease-causing. The traditional detection method can not detect the deafness caused by late deafness or gene mutation in time, and the testing of deafness can play the effect of early diagnosis, early detection and early intervention.

Product advantages

More comprehensive detection coverage:selecting 20 gene mutation sites with high incidence of Chinese group, is currentlythe most registered product in china, with 4 genes(GJB2,、GJB3,、SLC26A4,、mtDNA)）20 deaf gene mutation sites (35delG、167delT、176-191del16、235delC、299-300delAT、538C>T、547G>A、1494C>T、1555A>G、2168A>G、IVS7-2A>G、281C>T、589G>A、1174A>T、1226G>A、1229C>T、IVS15+5G>A、1975G>C、2027T>A、2162C>T);

High sensitivity:the detection limit of the genomic DNA of the examinee is 2ng / μL；

High accuracy: verified by 5000 multi-center clinical samples, the conformity rate with sequencing is 100%;

High resolution:It can detect heterozygous and homozygous mutations at the same time, with strong hybridization signal and weak non-specific signal. Common controls are set at common sites for heterozygous / homozygous discrimination to reduce missed detections；
Easy to use: the naked eye can directly interpret the results, stable and reliable；
High cost performance: no need for expensive special equipment.

Authoritative institution clinical verification:

Application areas and the significance of genetic testing

Obstetrics, Neonatal

Gynecologic

Otolaryngology

Internal Medicine, Surgery

Neonatal

Pre-pregnancy, early pregnancy women

Hearing-impaired patients and their families

Users of amino glycoside drugs

Early detection of congenital deafness,

late-onstage deafness and drug deafness,

early diagnosis, early prevention, early intervention

Screening carriers of deaf engene

mutations to provide genetic counselling

and guidance for birth defects

Hearing-impaired family marriage guidance

and medication guidance, prediction of

cochlear implant effect

Guidance on the use of antibiotics in

aminoglycoside drugs to prevent drug deafness

Process schematics

Results interpretation schematic

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 blood sample

Technical principle:PCR - reverse point hybridization

Packing size:25 test / kit

Class: In vitro diagnostic reagents

Applicable instruments: common gene amplification instrument, molecular hybridizer

Product Category

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

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