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Deafness Gene Mutation Detection Array Kit
Rapid, high throughput screening for hotspot mutations of hereditary hearing loss
CapitalBio Deafness Gene Mutation Detection Array Kit is designed for the rapid, high throughput screening of known hotspot mutations related to hereditary hearing loss. Nine mutations of four genes (GJB2, GJB3, SLC26A4 and 12S rRNA) are evaluated simultaneously.
Hereditary hearing loss is inherited in families. This type of hearing loss may be inherited from one parent or from both parents who may or may not have a loss of hearing themselves. The disease can be inherited in an autosomal dominant, an autosomal recessive, or an X-linked recessive manner, as well as by mitochondrial inheritance. Approximately 0.1% of children are born with profound hearing loss and more than 50% of prelingual deafness is genetic, most often autosomal recessive and nonsyndromic. Many different genes are known to cause hereditary hearing loss and deafness. Knowledge of the mutations can help identify hearing impairment at birth, so that educational programs that stimulate language can begin immediately. Knowledge of the mutations can also provide warning to avoid taking certain types of antibiotics, which are known to cause deafness in children carrying certain gene mutations.
Key Features
★ High throughput: 9 mutations of four genes can be detected simultaneously
★ Wide spectrum of mutation screening: the 9 mutations are hotspot mutations that cover the majority of hereditary hearing loss patients or mutation carriers
★ Simple procedures: specially designed PCR procedure and a standard hybridization process ensure that the test is simple and easy to control
★ High accuracy and efficiency: multiple data control design and automatic software for data processing are used to analyze the hybridization results, which ensures accuracy and efficiency
Information of the 9 mutations
|
Gene |
Mutation |
Chromosome
|
|
GJB2 |
35delG, 176-191del16, 235delC, 299-300delAT |
13q11-12
|
|
GJB3
|
538C>T
|
1p33-p35
|
|
12S rRNA
|
1555A>G, 1494C>T
|
mtDNA
|
|
SLC26A4
|
2168A>G, IVS7-2A>G
|
7q22-31.1
|

Applications
- Mutation carrier screen
- Prenatal diagnosis
- Neonatal screen
Ordering Information
|
Cat. No. |
Product Name |
Product Description
|
|
300065 |
CapitalBio Deafness Gene Mutation Detection Array Kit |
24 tests
|
For research use only

