KARS1 Gene Deafness Autosomal Recessive Type 89 Genetic Test
Cost: AED 4400.0
Symptoms and Diagnosis
KARS1 gene is responsible for encoding the enzyme lysyl-tRNA synthetase, which is crucial for protein synthesis. Mutations in this gene can cause autosomal recessive type 89 (DFNB89) deafness. To diagnose this condition, a genetic test is performed using NGS (Next-Generation Sequencing) technology.
Test Components
- Price: AED 4400.0
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Ear Nose Throat Disorders
- Doctor: ENT Doctor
- Test Department: Genetics
Pre Test Information
Clinical history of the patient is required, especially if they have GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes. A genetic counseling session may be conducted to draw a pedigree chart of family members affected by GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test gene GJB12.
Test Details
NGS genetic testing is a technique used to analyze multiple genes simultaneously. In the case of KARS1 gene deafness, NGS genetic testing can identify mutations in the KARS1 gene that may be responsible for causing DFNB89. The test involves obtaining a DNA sample, typically through a blood sample or saliva swab. The DNA is then sequenced using NGS technology to detect any variations or mutations in the KARS1 gene. This test provides a definitive diagnosis of DFNB89, which can be useful for genetic counseling and guiding potential treatment options for individuals affected by this type of deafness.
Test Name | KARS1 Gene Deafness autosomal recessive type 89 Genetic Test |
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Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Ear Nose Throat Disorders |
Doctor | ENT Doctor |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test gene GJB12 |
Test Details |
The KARS1 gene is responsible for encoding the enzyme lysyl-tRNA synthetase, which plays a crucial role in protein synthesis. Mutations in this gene can lead to a type of deafness known as autosomal recessive type 89 (DFNB89). NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously. In the case of KARS1 gene deafness, NGS genetic testing can identify mutations in the KARS1 gene that may be responsible for causing DFNB89. This type of genetic test involves obtaining a DNA sample, typically through a blood sample or saliva swab, from the individual being tested. The DNA is then sequenced using NGS technology, which allows for the detection of any variations or mutations in the KARS1 gene. By identifying specific mutations in the KARS1 gene, NGS genetic testing can provide a definitive diagnosis of DFNB89. This information can be useful for genetic counseling, as well as for guiding potential treatment options or interventions for individuals affected by this type of deafness. |