MTAP Gene Myopathy limb girdle with bone fragility Genetic Test
Test Name: MTAP Gene Myopathy limb girdle with bone fragility 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 MTAP Gene Myopathy, limb girdle with bone fragility NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MTAP Gene Myopathy, limb girdle with bone fragility.
Test Details
MTAP gene myopathy, limb girdle with bone fragility is a rare genetic disorder that affects muscle and bone health. It is caused by mutations in the MTAP gene, which provides instructions for producing the enzyme methylthioadenosine phosphorylase.
This condition is characterized by progressive muscle weakness, particularly in the muscles of the shoulders, hips, and thighs. Individuals with MTAP gene myopathy may also experience bone fragility, which can lead to an increased risk of fractures. Other symptoms may include joint contractures, respiratory difficulties, and delayed motor development.
NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the MTAP gene. This type of testing analyzes multiple genes simultaneously and can provide a comprehensive evaluation of an individual’s genetic makeup. It can help confirm a diagnosis of MTAP gene myopathy and may also be used to identify carriers of the condition within a family.
Genetic testing can be beneficial for individuals with suspected MTAP gene myopathy, as it can provide a definitive diagnosis and help guide treatment and management strategies. It can also be useful for family members who may be at risk of carrying the mutation and may benefit from genetic counseling and testing.
It is important to note that genetic testing for MTAP gene myopathy may not be widely available and may require consultation with a geneticist or a specialized laboratory. Additionally, genetic testing is just one component of a comprehensive diagnostic evaluation, and clinical assessment and other diagnostic tests may also be necessary to confirm a diagnosis.
| Test Name | MTAP Gene Myopathy limb girdle with bone fragility 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 MTAP Gene Myopathy, limb girdle with bone fragility NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MTAP Gene Myopathy, limb girdle with bone fragility |
| Test Details |
MTAP gene myopathy, limb girdle with bone fragility is a rare genetic disorder that affects muscle and bone health. It is caused by mutations in the MTAP gene, which provides instructions for producing the enzyme methylthioadenosine phosphorylase. This condition is characterized by progressive muscle weakness, particularly in the muscles of the shoulders, hips, and thighs. Individuals with MTAP gene myopathy may also experience bone fragility, which can lead to an increased risk of fractures. Other symptoms may include joint contractures, respiratory difficulties, and delayed motor development. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the MTAP gene. This type of testing analyzes multiple genes simultaneously and can provide a comprehensive evaluation of an individual’s genetic makeup. It can help confirm a diagnosis of MTAP gene myopathy and may also be used to identify carriers of the condition within a family. Genetic testing can be beneficial for individuals with suspected MTAP gene myopathy, as it can provide a definitive diagnosis and help guide treatment and management strategies. It can also be useful for family members who may be at risk of carrying the mutation and may benefit from genetic counseling and testing. It is important to note that genetic testing for MTAP gene myopathy may not be widely available and may require consultation with a geneticist or a specialized laboratory. Additionally, genetic testing is just one component of a comprehensive diagnostic evaluation, and clinical assessment and other diagnostic tests may also be necessary to confirm a diagnosis. |
