The CDCep™ Hereditary Deafness Gene test Kit utilizes Quantitative Fluorescent PCR (QF-PCR) combined with capillary electrophoresis to detect 21 key mutations across four genes: GJB2, SLC26A4, GJB3, and the mitochondrial 12S rRNA gene. It also includes dedicated software for efficient results analysis. This kit provides an efficient platform for hereditary hearing loss research, supporting applications such as deafness gene screening, prenatal genetic testing for hereditary hearing loss, genetic counseling, and reproductive planning.
In large-scale population studies, it helps researchers analyze the distribution patterns of pathogenic mutations (for example, the common high-frequency variants in GJB2 and SLC26A4). These insights enable the precise establishment of genotype-phenotype correlation models for hearing loss populations. It also offers deeper insight into how hereditary deafness is passed down through generations and helps identify potential intervention targets.
Direct Blood/Card Amplification
· Eliminates DNA extraction, reducing processing time and contamination risks.
Comprehensive Variant Panel
· Covers 21 clinically actionable variants across four core deafness genes (GJB2, SLC26A4, GJB3, mt12S).
Simple & Rapid Procedure
· Single-tube amplification completes in 3 hours, suitable for automated batch testing.
UDG Anti-Contamination System
· Effectively prevents PCR product contamination.
Automated Interpretation
· Analysis software enables one-click report generation.
| Species: | Human |
| Variant Types: | SNVIndel |
| Number of Genes: | 4 |
| Sample Type: | whole blood,Dried blood spot (DBS) cards,Amniotic fluid,Chorionic villi |
| Method: | Fluorescent PCR - Capillary Electrophoresis |
| Sequencing Platform: | Applied Biosystems |
Detection Result: c.235delC (heterozygous) in GJB2 gene
| Gene | Variants | Associated Conditions | Inheritance Pattern |
| GJB2 | 35 delG,109 G>A, 176 del16, 235 delC, 299 delAT, 512 insAACG | Congenital sensorineural hearing loss | Autosomal recessive |
| SLC26A4 | 281 C>T, 589 G>A, IVS7 - 2 A>G, 1174 A>T, 1226 G>A, 1229 C>T, 1975 G>C, 2027 T>A, 2168 A>G, 2162C>T, IVS 15 + 5 G>A | Enlarged Vestibular Aqueduct Syndrome | Autosomal recessive |
| mt12S | 1494 C>T, 1555 A>G | Aminoglycoside-induced hearing loss | Mitochondrial/Maternal inheritance |
| GJB3 | 538 C>T, 547G>A | Late-onset high-frequency sensorineural hearing loss | Autosomal dominant |
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