POMGNT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A8 Genetic Test
Genetic testing plays a crucial role in diagnosing and managing various genetic disorders. One such disorder is POMGNT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A8 (MDDGA8). This genetic disorder is characterized by muscle weakness and wasting, brain abnormalities, and eye anomalies.
The POMGNT2 gene is associated with MDDGA8, and Next-Generation Sequencing (NGS) genetic testing is used to identify mutations or variations in this gene. The cost of the POMGNT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A8 Genetic Test is AED 4400.0.
The test can be conducted using a blood sample, extracted DNA, or one drop of blood on an FTA card. The sample condition should be maintained appropriately to ensure accurate results. The report delivery time for this test is approximately 3 to 4 weeks.
The POMGNT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A8 Genetic Test falls under the category of neurological disorders. Therefore, it is recommended to consult a neurologist for this test.
The test is conducted in the Genetics department, and it is essential to provide the clinical history of the patient before undergoing the test. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by MDDGA8.
NGS genetic testing helps healthcare professionals identify mutations in the POMGNT2 gene, which aids in diagnosing MDDGA8. This information is crucial for understanding the underlying cause of the disorder and providing appropriate medical management and genetic counseling for affected individuals and their families.
| Test Name | POMGNT2 Gene Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A8 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 POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 |
| Test Details |
The POMGNT2 gene is associated with a specific type of muscular dystrophy-dystroglycanopathy called congenital muscular dystrophy with brain and eye anomalies, type A8 (MDDGA8). This genetic disorder is characterized by muscle weakness and wasting, brain abnormalities, and eye anomalies. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the case of MDDGA8, NGS genetic testing can identify mutations or variations in the POMGNT2 gene that may be responsible for causing the disorder. By performing NGS genetic testing, healthcare professionals can determine if a person has mutations in the POMGNT2 gene, which can help in diagnosing MDDGA8. This information is crucial for understanding the underlying cause of the disorder and can assist in providing appropriate medical management and genetic counseling for affected individuals and their families. |
