AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency Genetic Test
Cost: 4400.0 AED
Test Components:
- Blood or Extracted DNA
- 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 AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency.
Test Details:
AMPD1 gene myopathy is a rare genetic disorder caused by a deficiency in the enzyme myoadenylate deaminase (MAD). This enzyme is responsible for breaking down adenosine monophosphate (AMP) in muscle cells, which is an important step in the energy production process. Individuals with AMPD1 gene myopathy typically experience muscle pain, fatigue, and weakness, especially during exercise. The symptoms can vary in severity, ranging from mild discomfort to severe muscle damage and myoglobinuria (the presence of myoglobin in the urine).
NGS genetic testing can be used to identify mutations in the AMPD1 gene that cause myopathy. NGS, or next-generation sequencing, is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes. This can help identify specific genetic variants or mutations associated with AMPD1 gene myopathy. Genetic testing can provide a definitive diagnosis for individuals with suspected AMPD1 gene myopathy and can also help identify carriers of the genetic mutation. This information can be useful for family planning and genetic counseling.
It’s important to note that genetic testing is typically performed by healthcare professionals, such as geneticists or genetic counselors, who can interpret the results and provide appropriate recommendations and guidance.
| Test Name | AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency 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 AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency |
| Test Details |
AMPD1 gene myopathy is a rare genetic disorder caused by a deficiency in the enzyme myoadenylate deaminase (MAD). This enzyme is responsible for breaking down adenosine monophosphate (AMP) in muscle cells, which is an important step in the energy production process. Individuals with AMPD1 gene myopathy typically experience muscle pain, fatigue, and weakness, especially during exercise. The symptoms can vary in severity, ranging from mild discomfort to severe muscle damage and myoglobinuria (the presence of myoglobin in the urine). NGS genetic testing can be used to identify mutations in the AMPD1 gene that cause myopathy. NGS, or next-generation sequencing, is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes. This can help identify specific genetic variants or mutations associated with AMPD1 gene myopathy. Genetic testing can provide a definitive diagnosis for individuals with suspected AMPD1 gene myopathy and can also help identify carriers of the genetic mutation. This information can be useful for family planning and genetic counseling. It’s important to note that genetic testing is typically performed by healthcare professionals, such as geneticists or genetic counselors, who can interpret the results and provide appropriate recommendations and guidance. |
