AP1S1 Gene MEDNIK Syndrome Genetic Test
Welcome to DNA Labs UAE, where we offer the AP1S1 Gene MEDNIK syndrome genetic test. This test can help diagnose MEDNIK syndrome, a rare autosomal recessive disorder. Read on to learn more about the test components, cost, symptoms, diagnosis, and more.
Test Components
The AP1S1 Gene MEDNIK syndrome genetic test includes the following components:
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Osteology Dermatology Immunology Disorders
- Doctor: Dermatologist
- Test Department: Genetics
Test Cost
The cost of the AP1S1 Gene MEDNIK syndrome genetic test is 4400.0 AED.
Symptoms and Diagnosis
MEDNIK syndrome is characterized by intellectual disability, epilepsy, early-onset diabetes, and hypotonia. The AP1S1 gene is associated with this rare disorder. Our genetic test can help diagnose MEDNIK syndrome by identifying mutations or variations in the AP1S1 gene that may be responsible for the disorder.
NGS Technology
NGS (Next-Generation Sequencing) genetic testing is a high-throughput method used to analyze multiple genes simultaneously. In the context of MEDNIK syndrome, NGS genetic testing can provide a comprehensive and efficient approach to genetic diagnosis. It allows for the identification of potential disease-causing variants in the AP1S1 gene in a single test.
Pre Test Information
Prior to undergoing the AP1S1 Gene MEDNIK syndrome 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 MEDNIK syndrome. This will help in understanding the inheritance pattern and identifying individuals who may benefit from the genetic test.
At DNA Labs UAE, we are committed to providing accurate and timely genetic testing services. Our team of genetics specialists and dermatologists work together to ensure the highest quality of care for our patients. If you suspect MEDNIK syndrome or have any questions about our AP1S1 Gene MEDNIK syndrome genetic test, please contact us to schedule an appointment.
Test Name | AP1S1 Gene MEDNIK 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 | Osteology Dermatology Immunology Disorders |
Doctor | Dermatologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for AP1S1 Gene MEDNIK syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AP1S1 Gene MEDNIK syndrome NGS Genetic DNA Test gene AP1S1 |
Test Details |
The AP1S1 gene is associated with MEDNIK syndrome, a rare autosomal recessive disorder characterized by intellectual disability, epilepsy, early-onset diabetes, and hypotonia. NGS (Next-Generation Sequencing) genetic testing is a high-throughput method used to analyze multiple genes simultaneously. In the context of MEDNIK syndrome, NGS genetic testing can be used to identify mutations or variations in the AP1S1 gene that may be responsible for the disorder. This type of testing can provide a comprehensive and efficient approach to genetic diagnosis, allowing for the identification of potential disease-causing variants in a single test. |