VPS13A Gene Choreoacanthocytosis Genetic Test
At DNA Labs UAE, we offer the VPS13A Gene Choreoacanthocytosis Genetic Test, a diagnostic tool used to identify mutations in the VPS13A gene associated with choreoacanthocytosis. This rare genetic disorder is characterized by abnormal movements, psychiatric symptoms, and red blood cell abnormalities.
Test Details
The VPS13A Gene Choreoacanthocytosis Genetic Test is performed using NGS (next-generation sequencing) technology. This high-throughput sequencing method allows for the rapid and accurate analysis of large amounts of genetic data.
The test specifically sequences the entire VPS13A gene, which contains the instructions for producing the VPS13A protein. Mutations in this gene can disrupt the normal function of the VPS13A protein, which is involved in the transport of lipids and proteins within cells.
As a result of these mutations, abnormal lipids and proteins can accumulate in certain cells, including red blood cells, causing them to take on a spiky or “acanthocyte” shape.
Components
- Test Name: VPS13A Gene Choreoacanthocytosis Genetic Test
- 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 undergoing the VPS13A Gene Choreoacanthocytosis Genetic 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 by VPS13A Gene Choreoacanthocytosis.
Benefits of the Test
The VPS13A Gene Choreoacanthocytosis Genetic Test can identify mutations in the VPS13A gene associated with choreoacanthocytosis. Early diagnosis through this test allows for appropriate management of the disorder.
By detecting these mutations, healthcare professionals can provide targeted treatment plans and support to individuals with choreoacanthocytosis and their families.
If you suspect that you or a family member may have choreoacanthocytosis, we recommend consulting with a neurologist and considering the VPS13A Gene Choreoacanthocytosis Genetic Test for accurate diagnosis and personalized care.
| Test Name | VPS13A Gene Choreoacanthocytosis 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 VPS13A Gene Choreoacanthocytosis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VPS13A Gene Choreoacanthocytosis |
| Test Details |
The VPS13A gene choreoacanthocytosis NGS genetic test is a diagnostic tool used to identify mutations in the VPS13A gene that are associated with choreoacanthocytosis, a rare genetic disorder characterized by abnormal movements, psychiatric symptoms, and red blood cell abnormalities. NGS (next-generation sequencing) is a high-throughput sequencing technology that allows for the rapid and accurate analysis of large amounts of genetic data. The VPS13A gene choreoacanthocytosis NGS genetic test uses this technology to sequence the entire VPS13A gene, which contains the instructions for producing the VPS13A protein. Mutations in the VPS13A gene can disrupt the normal function of the VPS13A protein, which is involved in the transport of lipids and proteins within cells. This can lead to the accumulation of abnormal lipids and proteins in certain cells, including red blood cells, causing them to take on a spiky or “acanthocyte” shape. The VPS13A gene choreoacanthocytosis NGS genetic test can identify mutations in the VPS13A gene that are associated with choreoacanthocytosis, allowing for early diagnosis and appropriate management of the disorder. |
