PRPS1 Gene Deafness X-linked type 1 Genetic Test
Welcome to DNA Labs UAE, where we offer the PRPS1 Gene Deafness X-linked type 1 Genetic Test. This test is designed to identify mutations in the PRPS1 gene, which can lead to X-linked deafness type 1 (DFNX1).
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
Prior to undergoing the GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted 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 GJB13.
Test Details
The PRPS1 gene is responsible for producing an enzyme called phosphoribosyl pyrophosphate synthetase 1, which is crucial for the production of nucleotides, the building blocks of DNA and RNA. Mutations in the PRPS1 gene can lead to various genetic disorders, including X-linked deafness type 1 (DFNX1).
X-linked deafness type 1 primarily affects males and is caused by mutations in the PRPS1 gene located on the X chromosome. These mutations disrupt the normal functioning of the phosphoribosyl pyrophosphate synthetase 1 enzyme, leading to the degeneration of hair cells in the inner ear. Hair cells are responsible for converting sound vibrations into electrical signals that the brain can interpret.
NGS (Next-Generation Sequencing) genetic testing is a highly advanced and efficient method used to analyze the DNA sequence of genes, including the PRPS1 gene. This test allows for the identification of specific mutations or variants within the gene, providing valuable information about the genetic cause of X-linked deafness type 1.
To perform the NGS genetic testing for PRPS1 gene deafness, a DNA sample is obtained, typically through a blood sample or a saliva swab. The DNA is then sequenced using NGS technology, which generates vast amounts of DNA sequence data. This data is analyzed and compared to a reference sequence to identify any mutations or variants within the PRPS1 gene.
The results of the NGS genetic test can help confirm a diagnosis of X-linked deafness type 1 and provide important information for genetic counseling, family planning, and potential treatment options. It is crucial to note that genetic testing should be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate guidance and support.
| Test Name | PRPS1 Gene Deafness X-linked type 1 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 GJB13 |
| Test Details |
The PRPS1 gene is responsible for producing an enzyme called phosphoribosyl pyrophosphate synthetase 1, which plays a crucial role in the production of nucleotides, the building blocks of DNA and RNA. Mutations in the PRPS1 gene can lead to various genetic disorders, including X-linked deafness type 1 (DFNX1). X-linked deafness type 1 is a rare form of genetic hearing loss that primarily affects males. It is caused by mutations in the PRPS1 gene located on the X chromosome. These mutations disrupt the normal functioning of the phosphoribosyl pyrophosphate synthetase 1 enzyme, leading to the degeneration of hair cells in the inner ear, which are responsible for converting sound vibrations into electrical signals that the brain can interpret. NGS (Next-Generation Sequencing) genetic testing is a highly advanced and efficient method used to analyze the DNA sequence of genes, including the PRPS1 gene. This test allows for the identification of specific mutations or variants within the gene, providing valuable information about the genetic cause of X-linked deafness type 1. NGS genetic testing for PRPS1 gene deafness involves obtaining a DNA sample, typically through a blood sample or a saliva swab. The DNA is then sequenced using NGS technology, which generates vast amounts of DNA sequence data. This data is then analyzed and compared to a reference sequence to identify any mutations or variants within the PRPS1 gene. The results of the NGS genetic test can help confirm a diagnosis of X-linked deafness type 1 and provide important information for genetic counseling, family planning, and potential treatment options. It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate guidance and support. |
