PNPT1 Gene Deafness Autosomal Recessive Type 70 Genetic Test
Are you or someone you know experiencing symptoms of hearing loss? DNA Labs UAE offers the PNPT1 Gene Deafness Autosomal Recessive Type 70 Genetic Test to provide accurate diagnosis and potential treatment options. Read on to learn more about this genetic test.
Test Components and Price
The PNPT1 Gene Deafness Autosomal Recessive Type 70 Genetic Test is priced at 4400.0 AED. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
After the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes Next-Generation Sequencing (NGS) technology, allowing for the simultaneous analysis of multiple genes.
Test Type and Doctor
The PNPT1 Gene Deafness Autosomal Recessive Type 70 Genetic Test falls under the category of Ear Nose Throat Disorders. It is recommended to consult with an ENT Doctor for this test.
Test Department and Pre-Test Information
This genetic test is conducted in the Genetics department. Prior to the test, it is important to provide the clinical history of the patient who is going for the test, especially if they have been diagnosed with GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes. A Genetic Counselling session may be required to draw a pedigree chart of family members affected by the same condition.
Test Details
The PNPT1 gene is associated with a type of deafness known as autosomal recessive type 70 (DFNB70). To be affected by this genetic condition, an individual must have mutations in both copies of the PNPT1 gene. The PNPT1 Gene Deafness Autosomal Recessive Type 70 Genetic Test uses NGS technology to identify these mutations. By confirming a diagnosis of DFNB70, this test can provide important information for individuals and their families, including accurate diagnosis, prognosis, and potential treatment options. It can also be used for carrier testing in individuals with a family history of DFNB70.
If you or your family members are experiencing symptoms of hearing loss or have a family history of DFNB70, consider the PNPT1 Gene Deafness Autosomal Recessive Type 70 Genetic Test. It can provide valuable insights for your healthcare journey, including family planning and genetic counseling.
Test Name | PNPT1 Gene Deafness autosomal recessive type 70 Genetic Test |
---|---|
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 GJB11 |
Test Details |
The PNPT1 gene is associated with a type of deafness known as autosomal recessive type 70 (DFNB70). This genetic condition is inherited in an autosomal recessive manner, which means that both copies of the PNPT1 gene must have mutations for an individual to be affected. A genetic test using next-generation sequencing (NGS) can be used to identify mutations in the PNPT1 gene. NGS technology allows for the simultaneous analysis of multiple genes, making it an efficient method for identifying genetic mutations. By identifying mutations in the PNPT1 gene, a genetic test can confirm a diagnosis of DFNB70 in individuals with symptoms of hearing loss. It can also be used for carrier testing in individuals with a family history of DFNB70, as carriers have one mutated copy of the gene but do not typically experience hearing loss themselves. Genetic testing can provide important information for individuals and their families, including accurate diagnosis, prognosis, and potential treatment options. It can also help with family planning and genetic counseling. |