ATP2A1 Gene Brody Myopathy Genetic Test
Components
- Test Name: ATP2A1 Gene Brody Myopathy Genetic Test
- 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 ATP2A1 Gene Brody Myopathy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP2A1 Gene Brody Myopathy
Test Details
The ATP2A1 gene is responsible for encoding the sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1) protein, which plays a crucial role in muscle contraction and relaxation. Mutations in the ATP2A1 gene can lead to Brody myopathy, a rare autosomal recessive disorder characterized by exercise-induced muscle stiffness and cramps.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and detect genetic mutations associated with various diseases, including Brody myopathy. NGS testing can identify both common and rare genetic variants in the ATP2A1 gene, providing a comprehensive analysis of the patient’s genetic profile.
NGS genetic testing for Brody myopathy typically involves collecting a blood or saliva sample from the patient, which is then analyzed using advanced sequencing technology. The results of the test can help diagnose Brody myopathy, guide treatment decisions, and inform genetic counseling for the patient and their family members.
Test Name | ATP2A1 Gene Brody myopathy 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 ATP2A1 Gene Brody myopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP2A1 Gene Brody myopathy |
Test Details |
The ATP2A1 gene is responsible for encoding the sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1) protein, which plays a crucial role in muscle contraction and relaxation. Mutations in the ATP2A1 gene can lead to Brody myopathy, a rare autosomal recessive disorder characterized by exercise-induced muscle stiffness and cramps. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and detect genetic mutations associated with various diseases, including Brody myopathy. NGS testing can identify both common and rare genetic variants in the ATP2A1 gene, providing a comprehensive analysis of the patient’s genetic profile. NGS genetic testing for Brody myopathy typically involves collecting a blood or saliva sample from the patient, which is then analyzed using advanced sequencing technology. The results of the test can help diagnose Brody myopathy, guide treatment decisions, and inform genetic counseling for the patient and their family members. |