CAV3 Gene Creatine phosphokinase elevated serum Genetic Test
Welcome to DNA Labs UAE, a leading genetic laboratory specializing in advanced genetic testing. In this blog post, we will discuss the CAV3 Gene Creatine phosphokinase elevated serum Genetic Test and its importance in diagnosing neurological disorders.
Test Details
The CAV3 gene encodes for the protein caveolin-3, which plays a crucial role in the formation of caveolae – small invaginations in the plasma membrane involved in cell signaling and lipid metabolism. Mutations in the CAV3 gene have been linked to a rare form of muscular dystrophy known as limb-girdle muscular dystrophy type 1C (LGMD1C). LGMD1C is characterized by progressive muscle weakness and wasting.
Creatine phosphokinase (CPK) is an enzyme found in skeletal muscle, heart muscle, and brain tissue. Elevated serum levels of CPK can indicate muscle damage or disease. Therefore, an elevated serum CPK level, along with NGS genetic testing for mutations in the CAV3 gene, can be used to diagnose LGMD1C.
Test Name: CAV3 Gene Creatine phosphokinase elevated serum Genetic 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
Prior to undergoing the CAV3 Gene Creatine phosphokinase elevated serum Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by CAV3 Gene Creatine phosphokinase elevated serum.
Genetic counseling is an essential step in understanding the inheritance pattern and potential risks associated with LGMD1C. It helps in identifying affected family members, providing support, and guiding future treatment options.
Conclusion
The CAV3 Gene Creatine phosphokinase elevated serum Genetic Test offered by DNA Labs UAE is a valuable tool in the diagnosis of limb-girdle muscular dystrophy type 1C (LGMD1C). By analyzing the CAV3 gene and measuring serum CPK levels, our advanced NGS technology can identify genetic variations and mutations associated with LGMD1C. This test, performed under the supervision of our expert neurologists, can provide crucial insights into the patient’s condition, enabling appropriate treatment and management strategies.
For more information or to schedule an appointment for the CAV3 Gene Creatine phosphokinase elevated serum Genetic Test, please contact DNA Labs UAE.
| Test Name | CAV3 Gene Creatine phosphokinase elevated serum 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 CAV3 Gene Creatine phosphokinase, elevated serum NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CAV3 Gene Creatine phosphokinase, elevated serum |
| Test Details |
The CAV3 gene encodes for the protein caveolin-3, which is involved in the formation of caveolae, small invaginations in the plasma membrane that are involved in cell signaling and lipid metabolism. Mutations in the CAV3 gene have been linked to a rare form of muscular dystrophy called limb-girdle muscular dystrophy type 1C (LGMD1C), which is characterized by progressive muscle weakness and wasting. Creatine phosphokinase (CPK) is an enzyme found in skeletal muscle, heart muscle, and brain tissue. Elevated serum levels of CPK can indicate muscle damage or disease. NGS (next-generation sequencing) genetic testing is a type of genetic testing that uses advanced technology to rapidly sequence large amounts of DNA. This allows for the detection of genetic variations, including mutations in the CAV3 gene that may be associated with LGMD1C. Therefore, an elevated serum CPK level and NGS genetic testing for mutations in the CAV3 gene may be used to diagnose LGMD1C. |
