ATP1A3 Gene CAPOS 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
Neurological Disorders
Doctor
Neurologist
Test Department
Genetics
Pre Test Information
Clinical History of Patient who is going for ATP1A3 Gene CAPOS Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP1A3 Gene CAPOS Syndrome.
Test Details
The ATP1A3 gene is responsible for encoding a protein called sodium-potassium adenosine triphosphatase alpha-3 subunit, which is essential for maintaining the balance of sodium and potassium ions in cells. Mutations in this gene have been associated with a rare genetic disorder called CAPOS Syndrome, which stands for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural hearing loss.
NGS (Next Generation Sequencing) genetic testing is a technique used to analyze the DNA sequence of a patient’s genome. It is a powerful tool for identifying mutations in genes like ATP1A3 that are associated with genetic disorders like CAPOS Syndrome. NGS testing can detect a wide range of genetic variations, including single nucleotide polymorphisms (SNPs), insertions, deletions, and structural variants.
Patients with suspected CAPOS Syndrome may undergo NGS genetic testing to identify mutations in the ATP1A3 gene. This can help confirm a diagnosis and inform treatment decisions. Genetic testing can also be useful for family members of patients with CAPOS Syndrome, as it can identify individuals who may be at risk of developing the disorder.
Test Name | ATP1A3 Gene CAPOS 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 ATP1A3 Gene CAPOS syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP1A3 Gene CAPOS syndrome |
Test Details | The ATP1A3 gene is responsible for encoding a protein called sodium-potassium adenosine triphosphatase alpha-3 subunit, which is essential for maintaining the balance of sodium and potassium ions in cells. Mutations in this gene have been associated with a rare genetic disorder called CAPOS syndrome, which stands for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural hearing loss. NGS (Next Generation Sequencing) genetic testing is a technique used to analyze the DNA sequence of a patient’s genome. It is a powerful tool for identifying mutations in genes like ATP1A3 that are associated with genetic disorders like CAPOS syndrome. NGS testing can detect a wide range of genetic variations, including single nucleotide polymorphisms (SNPs), insertions, deletions, and structural variants. Patients with suspected CAPOS syndrome may undergo NGS genetic testing to identify mutations in the ATP1A3 gene. This can help confirm a diagnosis and inform treatment decisions. Genetic testing can also be useful for family members of patients with CAPOS syndrome, as it can identify individuals who may be at risk of developing the disorder. |