TWNK Gene Mitochondrial DNA depletion syndrome type 7 Genetic Test
At DNA Labs UAE, we offer the TWNK Gene Mitochondrial DNA depletion syndrome type 7 Genetic Test. This test is designed to analyze the TWNK gene for mutations associated with mitochondrial DNA depletion syndrome type 7. Mitochondrial DNA depletion syndrome is a rare genetic disorder characterized by a reduction in the amount of mitochondrial DNA in affected tissues, leading to mitochondrial dysfunction.
Test Details
The TWNK gene mitochondrial DNA depletion syndrome type 7 NGS genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze multiple genes, including the TWNK gene, for any mutations or variations that may be causing the disease. This test is recommended for individuals with symptoms suggestive of mitochondrial DNA depletion syndrome, such as muscle weakness, developmental delays, seizures, and liver dysfunction. It can also be used for carrier testing in individuals with a family history of the condition.
Components and Price
The TWNK Gene Mitochondrial DNA depletion syndrome type 7 Genetic Test is priced at 4400.0 AED. The test requires a blood or extracted DNA sample, or one drop of blood on an FTA Card. The report delivery time is typically 3 to 4 weeks.
Test Department and Doctor
The TWNK Gene Mitochondrial DNA depletion syndrome type 7 Genetic Test is conducted in our Genetics department and is overseen by a Neurologist.
Pre Test Information
Prior to the test, it is important to provide the clinical history of the patient who is going for the TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic DNA Test. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected with TWNK Gene Mitochondrial DNA depletion syndrome type 7.
Test Results and Implications
The results of the TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS genetic test can help healthcare providers determine the appropriate management and treatment options for affected individuals. Genetic counseling may also be recommended to discuss the implications of the test results and provide information on the inheritance pattern and recurrence risks.
| Test Name | TWNK Gene Mitochondrial DNA depletion syndrome type 7 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 TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TWNK Gene Mitochondrial DNA depletion syndrome type 7 |
| Test Details |
TWNK gene mitochondrial DNA depletion syndrome type 7 NGS genetic test is a genetic test that analyzes the TWNK gene for mutations associated with mitochondrial DNA depletion syndrome type 7. This syndrome is a rare genetic disorder characterized by a reduction in the amount of mitochondrial DNA in affected tissues, leading to mitochondrial dysfunction. The NGS (Next-Generation Sequencing) technology used in this test allows for the simultaneous analysis of multiple genes, including the TWNK gene, to identify any mutations or variations that may be causing the disease. By detecting these genetic changes, the test can provide a definitive diagnosis for individuals suspected of having mitochondrial DNA depletion syndrome type 7. This genetic test is typically recommended for individuals with symptoms suggestive of mitochondrial DNA depletion syndrome, such as muscle weakness, developmental delays, seizures, and liver dysfunction. It can also be used for carrier testing in individuals with a family history of the condition. The results of the TWNK gene mitochondrial DNA depletion syndrome type 7 NGS genetic test can help healthcare providers determine the appropriate management and treatment options for affected individuals. Genetic counseling may also be recommended to discuss the implications of the test results and provide information on the inheritance pattern and recurrence risks. |
