POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A3 Genetic Test
Test Name: POMGNT1 Gene Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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 POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3.
Test Details: The POMGNT1 gene is associated with a rare genetic disorder called muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3. This disorder is characterized by muscle weakness and wasting (muscular dystrophy), as well as abnormalities in the brain and eyes. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously. In the context of POMGNT1 gene testing, NGS can be used to identify mutations or variations in the POMGNT1 gene that may be responsible for the development of muscular dystrophy-dystroglycanopathy, type A3. Genetic testing for POMGNT1 gene mutations can help in confirming a diagnosis, predicting the likelihood of passing on the disorder to offspring, and guiding appropriate management and treatment options. It is typically recommended for individuals with symptoms suggestive of muscular dystrophy-dystroglycanopathy, type A3, or those with a family history of the condition. If you have concerns about this genetic disorder or are considering genetic testing, it is recommended to consult with a healthcare professional or a genetic counselor who can provide personalized information and guidance based on your specific situation.
Test Name | POMGNT1 Gene Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 Genetic Test |
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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 POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
Test Details |
The POMGNT1 gene is associated with a rare genetic disorder called muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3. This disorder is characterized by muscle weakness and wasting (muscular dystrophy), as well as abnormalities in the brain and eyes. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously. In the context of POMGNT1 gene testing, NGS can be used to identify mutations or variations in the POMGNT1 gene that may be responsible for the development of muscular dystrophy-dystroglycanopathy, type A3. Genetic testing for POMGNT1 gene mutations can help in confirming a diagnosis, predicting the likelihood of passing on the disorder to offspring, and guiding appropriate management and treatment options. It is typically recommended for individuals with symptoms suggestive of muscular dystrophy-dystroglycanopathy, type A3, or those with a family history of the condition. If you have concerns about this genetic disorder or are considering genetic testing, it is recommended to consult with a healthcare professional or a genetic counselor who can provide personalized information and guidance based on your specific situation. |