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

Genetic deafness gene ✘×mutation detection kit (PCR-reverse dot hybr¶ε"idization)

Clinical background

  There are about 27.8 million peopl¥$<e with hearing disabilitiαγ ♦es in China, accounting for β↓ 33%of the total number of δ®✘↓people with disabilities, and the proportion§​‍≤ of newborndeafness is about♥£π☆ 1-3%. More than 30,000 >★δ";new deaf children ar↔ ©✘e born each year, with more t©πhan 60%of the genetic factors causing 3&nb‌≈sp;deafness. Environmental fac↑±tors (about 20%),unk★‌₽☆nown factors (about 20%×↑±),in the normalpopulation, deaf gene mutati≈☆↕on carriers more than♦← 80 million people. A large number♠> of patients with late hearing l"✔'oss are deaf engenedeaf by th≤$→eir own genetic defects, or by genetic de¶δ₩γfects and polymorphism, resulting in sensitivity×↕π to deafening environmental f •actors, and thus disease-causing. The ±‌>traditional detection method can not dσΩ✔☆etect the deafness caused by late deafness or ∞§ gene mutation in time, and the testing of deafn&λ♠ess can play the effect of early di↕ agnosis, early detection and early inteπ​ rvention.

Product advantages
More comprehensive detection coverage:selecting 20 gene mutation sites with hiΩ♥ gh incidence of Chinese grouλ¶p, is currentlythe most regis÷Ω≥★tered product in china, with ✘✔•4 genes(GJB2,、GJB3,、SLC26A4,、mtDN©§A))20 deaf gene mutation sites (35delG、167₩ delT、176-191del16、235del→λ→C、299-300delAT、538C&g®‍ αt;T、547G>A、1494C>T、&ε1555A>G、2168A>G、IVS7 ₹®-2A>G、281C>T、589G>A、1174π¥ A>T、1226G>A、1229C×£β>T、IVS15+5G>A、1975G&g✘δt;C、2027T>A、2162C>T);

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

High accuracy: verified by 5000 mul αti-center clinical sample÷✔αs, the conformity rate with sequenci‍π↓ng is 100%;


High resolution:It can detect heterozygous and homozβ‍γygous mutations at the same time, wit≥‌h strong hybridization sign ≤¥al and weak non-specific signa‌↑÷l. Common controls are set at common s≤♣ites for heterozygous / homozygous discriminati≠&α≤on 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 institu••§™tion clinical verificπ‌​ation:



Application areas and the sig↕‌nificance of genetic testing

Obstetrics, Neonatal σ&

Gynecologic

Otolaryngology

Internal Medic≈™<ine, Surgery

Neonatal

Pre-pregnancy, ea≥×↑rly pregnancy women

Hearing-impaired patients and their fa‌≠π‍milies

Users of amino glycoside drugs

Early detection of congenital deafness,&n↑β↑γbsp;

late-onstage deafness¶∞  and drug deafness, 

early diagnosis, e→☆≤&arly prevention, early intervention ★λ

Screening carri≥↔σers of deaf engene   ∞

mutations to provΩ₩₹ide genetic counsellin✘©£✘g 

and guidance for b♥↔∑irth defects

Hearing-impaired famil↕♦'y marriage guidance ®  ±

 and medication guidance, prediction ↑✔of 

cochlear implant e≤™☆σffect

Guidance on the use of antibiotics in&↔←£nbsp;

aminoglycoside drugs to prevent druδ☆g deafness

Process schematics
Results interpretatio≈λn 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● <λ​β

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&nbs®₽p;blood sample

Technical principle:PCR - rev¶→erse point hybridizatio≥​↔n

Packing size:25 test&nb♥σsp;/ kit

Class: In vitro diag"₽∞>nostic reagents

Applicable instruments: common gene amplificati£π₩♠on instrument, molecular hyb↑÷ridizer