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

Product No.: 
300065