KCNJ10 Gene SESAME Syndrome Genetic Test
Welcome to DNA Labs UAE, where we offer the KCNJ10 Gene SESAME Syndrome Genetic Test. This test is designed to help diagnose and determine the specific genetic cause of SESAME syndrome, a rare genetic disorder.
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: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
Pre Test Information
Prior to the KCNJ10 Gene SESAME Syndrome Genetic Test, it is important to gather the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by KCNJ10 Gene SESAME Syndrome.
Test Details
The KCNJ10 gene is responsible for producing a protein called Kir4.1, which plays a crucial role in maintaining the balance of potassium ions in cells, particularly in the kidneys and inner ear. Mutations in the KCNJ10 gene can lead to SESAME syndrome, a rare genetic disorder characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.
Our KCNJ10 Gene SESAME Syndrome Genetic Test utilizes NGS (Next-Generation Sequencing) technology. NGS is a high-throughput DNA sequencing method that allows for the rapid and cost-effective analysis of large amounts of genetic material. With NGS, we can analyze the entire coding region of the KCNJ10 gene to identify any mutations or variations that may be present.
This genetic test is instrumental in diagnosing SESAME syndrome and determining the specific genetic cause of the disorder. By identifying mutations in the KCNJ10 gene through NGS, healthcare professionals can provide accurate genetic counseling, develop personalized treatment plans, and potentially offer targeted therapies for individuals with SESAME syndrome.
Test Name | KCNJ10 Gene SESAME syndrome Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Neurological Disorders |
Doctor | Neurologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for KCNJ10 Gene SESAME syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCNJ10 Gene SESAME syndrome |
Test Details |
The KCNJ10 gene is responsible for producing a protein called Kir4.1, which is involved in maintaining the balance of potassium ions in cells, especially in the kidneys and inner ear. Mutations in the KCNJ10 gene can lead to a rare genetic disorder known as SESAME syndrome (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance). NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that allows for the rapid and cost-effective sequencing of large amounts of genetic material. NGS can be used to analyze the entire coding region of the KCNJ10 gene to identify any mutations or variations that may be present. This genetic test can help in diagnosing SESAME syndrome and determining the specific genetic cause of the disorder. By identifying mutations in the KCNJ10 gene through NGS, healthcare professionals can provide accurate genetic counseling, develop personalized treatment plans, and potentially offer targeted therapies for individuals with SESAME syndrome. |