CHMP1A Gene Pontocerebellar Hypoplasia Type 8 Genetic Test
Welcome to DNA Labs UAE, where we offer the CHMP1A Gene Pontocerebellar Hypoplasia Type 8 Genetic Test. This test is designed to diagnose and provide information about the rare neurodevelopmental disorder known as pontocerebellar hypoplasia type 8 (PCH8).
Test Components
- Test Name: CHMP1A Gene Pontocerebellar Hypoplasia Type 8 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 CHMP1A Gene Pontocerebellar Hypoplasia Type 8 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with CHMP1A Gene Pontocerebellar Hypoplasia Type 8.
Test Details
The CHMP1A gene is associated with pontocerebellar hypoplasia type 8 (PCH8), a rare neurodevelopmental disorder characterized by underdevelopment of the pons and cerebellum. This condition leads to various neurological symptoms. Our NGS (Next-Generation Sequencing) genetic testing method allows for the simultaneous analysis of multiple genes to identify variations or mutations in the DNA sequence. Specifically for PCH8, the NGS genetic testing can identify mutations or variations in the CHMP1A gene that may be responsible for the condition. This analysis of the CHMP1A gene’s DNA sequence helps in diagnosing PCH8, providing information about the specific genetic variant involved, and assisting in genetic counseling and family planning.
It is crucial to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and potential implications of the CHMP1A Gene Pontocerebellar Hypoplasia Type 8 Genetic Test.
Test Name | CHMP1A Gene Pontocerebellar hypoplasia type 8 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 CHMP1A Gene Pontocerebellar hypoplasia type 8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHMP1A Gene Pontocerebellar hypoplasia type 8 |
Test Details | The CHMP1A gene is associated with a genetic condition called pontocerebellar hypoplasia type 8 (PCH8). PCH8 is a rare neurodevelopmental disorder characterized by underdevelopment (hypoplasia) of the pons and cerebellum, leading to various neurological symptoms. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify variations or mutations in the DNA sequence. In the case of PCH8, NGS genetic testing can be used to identify mutations or variations in the CHMP1A gene that may be responsible for the condition. By analyzing the DNA sequence of the CHMP1A gene, NGS testing can help diagnose PCH8, provide information about the specific genetic variant involved, and assist in genetic counseling and family planning. It’s important to consult with a healthcare professional or a genetic counselor to discuss the specifics of the test, including its benefits, limitations, and potential implications. |