FLNA Gene Frontometaphyseal dysplasia 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 FLNA Gene Frontometaphyseal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FLNA Gene Frontometaphyseal dysplasia.
Test Details
Frontometaphyseal dysplasia (FMD) is a rare genetic disorder that affects bone and cartilage development. It is caused by mutations in the FLNA gene, which provides instructions for making the protein filamin A. Filamin A helps to organize the cytoskeleton, which is the framework that gives cells their shape and helps them move.
NGS (next-generation sequencing) is a genetic test that can be used to analyze the FLNA gene and identify mutations that cause FMD. This test involves sequencing the entire FLNA gene, rather than just specific regions, which allows for a more comprehensive analysis of potential mutations.
NGS testing for FMD can help diagnose the condition in individuals with symptoms such as craniofacial abnormalities, skeletal abnormalities, and joint stiffness. It can also be used to identify carriers of the FLNA mutation in families with a history of FMD.
Genetic testing for FMD can provide valuable information for affected individuals and their families, including the potential for genetic counseling and management of symptoms. However, it is important to discuss the benefits and limitations of testing with a healthcare provider before undergoing any genetic testing.
Test Name | FLNA Gene Frontometaphyseal dysplasia 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 FLNA Gene Frontometaphyseal dysplasia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FLNA Gene Frontometaphyseal dysplasia |
Test Details |
Frontometaphyseal dysplasia (FMD) is a rare genetic disorder that affects bone and cartilage development. It is caused by mutations in the FLNA gene, which provides instructions for making the protein filamin A. Filamin A helps to organize the cytoskeleton, which is the framework that gives cells their shape and helps them move. NGS (next-generation sequencing) is a genetic test that can be used to analyze the FLNA gene and identify mutations that cause FMD. This test involves sequencing the entire FLNA gene, rather than just specific regions, which allows for a more comprehensive analysis of potential mutations. NGS testing for FMD can help diagnose the condition in individuals with symptoms such as craniofacial abnormalities, skeletal abnormalities, and joint stiffness. It can also be used to identify carriers of the FLNA mutation in families with a history of FMD. Genetic testing for FMD can provide valuable information for affected individuals and their families, including the potential for genetic counseling and management of symptoms. However, it is important to discuss the benefits and limitations of testing with a healthcare provider before undergoing any genetic testing. |