POMGNT1 Gene Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 Genetic Test
Test Name: POMGNT1 Gene Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 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 mental retardation), type B3 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 mental retardation), type B3.
Test Details: The POMGNT1 gene is associated with a specific type of muscular dystrophy called muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3. This genetic disorder is characterized by muscle weakness and wasting, intellectual disability, and various brain abnormalities. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup. 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 B3. NGS genetic testing can help with the diagnosis of this condition, provide information about the specific genetic variant causing the disease, and assist in determining the inheritance pattern within a family. This information is crucial for genetic counseling, family planning, and potentially guiding treatment options. It’s important to note that genetic testing should be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide accurate and personalized information based on an individual’s specific circumstances.
Test Name | POMGNT1 Gene Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 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 mental retardation), type B3 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 mental retardation), type B3 |
Test Details |
The POMGNT1 gene is associated with a specific type of muscular dystrophy called muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3. This genetic disorder is characterized by muscle weakness and wasting, intellectual disability, and various brain abnormalities. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup. 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 B3. NGS genetic testing can help with the diagnosis of this condition, provide information about the specific genetic variant causing the disease, and assist in determining the inheritance pattern within a family. This information is crucial for genetic counseling, family planning, and potentially guiding treatment options. It’s important to note that genetic testing should be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide accurate and personalized information based on an individual’s specific circumstances. |