Introduction
Hearing loss is a common clinical disease, and genetic factors are the main causes of hearing loss. Through high-throughput sequencing technology and Sanger sequencing technology, common hearing loss genes and high-frequency mutation sites can be detected at once to control the occurrence and development of hearing loss and reduce hearing disability. BGI genomics can test 218 genes related to genetic hearing loss, find the genetic causes of hearing impairment and provide information for hearing impairment treatment and fertility guidance.
What clinical challenges are targeted by NOVA™ Genetic Hearing Loss Panel?
Hearing loss is one of the common conditions which manifest on newborns and children. Population-based studies in Europe and North America have identified a consistent prevalence of approximately 0.1% of children having a hearing loss.
Hearing loss has many causes. 50% to 60% of hearing loss in babies is due to genetic causes, i.e. by mutations. About 70% of all mutations causing hearing loss are non-syndromic, while about 30% of the mutations causing hearing loss are syndromic.
There are hundreds of genes underly genetic hearing loss, and the inheritance modes these genes can be further divided into autosomal recessive non-syndromic hearing impairment, autosomal dominant non-syndromic hearing impairment, X-link hereditary hearing impairment, Y-link hereditary hearing impairment, maternally inherited hearing impairment and syndromic hearing impairment. NOVA™ Genetic Hearing Loss Panel tests for all these genes with different genetic mechanisms in one practice, maximize the possibility of a diagnostic yield of genetic hearing loss.
Applicable Clinical Scenarios
- Help to make a diagnose for patients with hearing impairment symptoms.
- Help to test for individual with a family history of hearing impairment, find out whether the individual carries or is affected by disease-causing variants.
Important features of NOVA™ Genetic Hearing Loss Panel
| Product Name | NOVA™ Genetic Hearing Loss Panel |
| Detection Method | NGS (Target capture) |
| Sample Type | Peripheral blood; Dried blood film; Genomic DNA |
| Conditions Detected | Hereditary Hearing Loss |
| Genes Detected | 218 genes related to hereditary hearing impairment Autosomal recessive non-syndromic hearing impairment: 72 genes Autosomal dominant non-syndromic hearing impairment: 46 genes X-link hereditary hearing impairment: 6 genes Y-link hereditary hearing impairment: 1gene Maternally inherited hearing impairment: 5 genes Syndromic hearing impairment: 119 genes |
Why Choose NOVA™ Genetic Hearing Loss Panel
- Accurate
Patented DNB nanoball (DNB) library construction technology and Combinatorial Probe-Anchor Synthesis sequencing technology result in high Q30 rate.
- Comprehensive
Test for more than 200 genes related to different modes of inheritance.
- Multiple Sample Types
Carrier Screening product can accommodate samples from Blood, oral swap, or dried blood spot accepted.
- Safe
We offer a safe and non-invasive method for comprehensive genetic analysis.
The NOVA™ Genetic Hearing Loss Panel detection service process
Step 1
Physician orders test
Step 2
Sample collected
Step 3
Sample shipment and analyzed
Step 4
Results sent to physician
NOVA™ Genetic Hearing Loss Panel resources
Learn more about our product solution by downloading the relevant materials.
- Condition list
- The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review