POMGNT1 Gene Muscular dystrophy-dystroglycanopathy limb-girdle type C3 Genetic Test
At DNA Labs UAE, we offer the POMGNT1 Gene Muscular dystrophy-dystroglycanopathy limb-girdle type C3 Genetic Test. This test is designed to diagnose and provide information about a specific type of muscular dystrophy called muscular dystrophy-dystroglycanopathy (limb-girdle), type C3.
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
Before undergoing the POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3.
Test Details
The POMGNT1 gene is associated with muscular dystrophy-dystroglycanopathy (limb-girdle), type C3. This genetic disorder is characterized by muscle weakness and wasting, primarily in the muscles of the shoulders, upper arms, hips, and thighs. The condition is caused by mutations in the POMGNT1 gene, which plays a role in the production of a protein called O-mannosyltransferase 1.
NGS (Next-Generation Sequencing) genetic testing is utilized for the analysis of multiple genes or even the entire genome. In the case of POMGNT1 gene testing, NGS can identify mutations or variations in the POMGNT1 gene that may contribute to the development of muscular dystrophy-dystroglycanopathy (limb-girdle), type C3. This type of genetic testing aids in the diagnosis of the condition and provides information about the risk of passing it on to future generations.
It is important to note that genetic testing should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.
Test Name | POMGNT1 Gene Muscular dystrophy-dystroglycanopathy limb-girdle type C3 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 POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 |
Test Details |
The POMGNT1 gene is associated with a specific type of muscular dystrophy called muscular dystrophy-dystroglycanopathy (limb-girdle), type C3. This genetic disorder is characterized by muscle weakness and wasting, particularly in the muscles of the shoulders, upper arms, hips, and thighs. It is caused by mutations in the POMGNT1 gene, which is involved in the production of a protein called O-mannosyltransferase 1. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that allows for the simultaneous analysis of multiple genes or even the entire genome. In the case 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 (limb-girdle), type C3. This type of genetic testing can help in the diagnosis of the condition and provide information about the risk of passing it on to future generations. It is important to note that genetic testing should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support. |