POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A2 Genetic Test
Test Details
The POMT2 gene is associated with a type of muscular dystrophy called muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2. This condition is characterized by muscle weakness and wasting, along with brain and eye abnormalities. The NGS (Next-Generation Sequencing) genetic test is a type of genetic testing that can analyze multiple genes simultaneously. In the case of POMT2 gene testing, NGS can identify any variations or mutations in the POMT2 gene that may be causing the condition. This genetic test can help in confirming a diagnosis of muscular dystrophy-dystroglycanopathy, type A2 and can also be useful for carrier testing in individuals with a family history of the condition. It can provide valuable information for genetic counseling, management, and treatment options. It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetics, as they can provide appropriate counseling and guidance based on the test results.
Test Name
POMT2 Gene Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 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
Neurological Disorders
Doctor
Neurologist
Test Department
Genetics
Pre Test Information
Clinical History of Patient who is going for POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2.
Test Name | POMT2 Gene Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 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 POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 |
Test Details |
The POMT2 gene is associated with a type of muscular dystrophy called muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2. This condition is characterized by muscle weakness and wasting, along with brain and eye abnormalities. The NGS (Next-Generation Sequencing) genetic test is a type of genetic testing that can analyze multiple genes simultaneously. In the case of POMT2 gene testing, NGS can identify any variations or mutations in the POMT2 gene that may be causing the condition. This genetic test can help in confirming a diagnosis of muscular dystrophy-dystroglycanopathy, type A2 and can also be useful for carrier testing in individuals with a family history of the condition. It can provide valuable information for genetic counseling, management, and treatment options. It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetics, as they can provide appropriate counseling and guidance based on the test results. |