SLC26A4 Gene Pendred syndrome 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
Hepatology Nephrology Endocrinology Disorders
Doctor
General Physician
Test Department
Genetics
Pre Test Information
Clinical History of Patient who is going for SLC26A4 Gene Pendred syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC26A4 Gene Pendred syndrome NGS Genetic DNA Test gene SLC26A4
Test Details
The SLC26A4 gene is associated with Pendred syndrome, which is an autosomal recessive disorder characterized by hearing loss and an enlarged thyroid gland (goiter). The SLC26A4 gene provides instructions for making a protein called pendrin, which is involved in the transport of ions (charged particles) across cell membranes.
A next-generation sequencing (NGS) genetic test for Pendred syndrome would involve analyzing the DNA sequence of the SLC26A4 gene to identify any variations or mutations that may be present. This test can help confirm a diagnosis of Pendred syndrome and determine the specific genetic mutation causing the disorder.
NGS technology allows for the simultaneous analysis of multiple genes or even the entire exome (all the protein-coding regions of genes) in a single test. This comprehensive approach increases the likelihood of identifying the genetic cause of Pendred syndrome, as well as other potential genetic conditions.
The test is typically performed using a blood or saliva sample. The DNA is extracted from the sample and prepared for sequencing. The SLC26A4 gene is then specifically targeted for sequencing, and the resulting DNA sequence data is analyzed to identify any variations or mutations.
If a genetic mutation is identified in the SLC26A4 gene, it can provide valuable information for genetic counseling, family planning, and potential treatment options. It is important to note that not all individuals with Pendred syndrome will have a detectable mutation in the SLC26A4 gene, as there may be other genetic factors contributing to the disorder.
It is recommended to consult with a genetic counselor or healthcare provider to discuss the appropriateness of genetic testing and to understand the potential benefits, limitations, and implications of the test results.
| Test Name | SLC26A4 Gene Pendred syndrome 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 | Hepatology Nephrology Endocrinology Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for SLC26A4 Gene Pendred syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC26A4 Gene Pendred syndrome NGS Genetic DNA Test gene SLC26A4 |
| Test Details |
The SLC26A4 gene is associated with Pendred syndrome, which is an autosomal recessive disorder characterized by hearing loss and an enlarged thyroid gland (goiter). The SLC26A4 gene provides instructions for making a protein called pendrin, which is involved in the transport of ions (charged particles) across cell membranes. A next-generation sequencing (NGS) genetic test for Pendred syndrome would involve analyzing the DNA sequence of the SLC26A4 gene to identify any variations or mutations that may be present. This test can help confirm a diagnosis of Pendred syndrome and determine the specific genetic mutation causing the disorder. NGS technology allows for the simultaneous analysis of multiple genes or even the entire exome (all the protein-coding regions of genes) in a single test. This comprehensive approach increases the likelihood of identifying the genetic cause of Pendred syndrome, as well as other potential genetic conditions. The test is typically performed using a blood or saliva sample. The DNA is extracted from the sample and prepared for sequencing. The SLC26A4 gene is then specifically targeted for sequencing, and the resulting DNA sequence data is analyzed to identify any variations or mutations. If a genetic mutation is identified in the SLC26A4 gene, it can provide valuable information for genetic counseling, family planning, and potential treatment options. It is important to note that not all individuals with Pendred syndrome will have a detectable mutation in the SLC26A4 gene, as there may be other genetic factors contributing to the disorder. It is recommended to consult with a genetic counselor or healthcare provider to discuss the appropriateness of genetic testing and to understand the potential benefits, limitations, and implications of the test results. |
