CCDC78 Gene Centronuclear Myopathy Type 4 Genetic Test
Test Name: CCDC78 Gene Centronuclear myopathy type 4 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 CCDC78 Gene Centronuclear myopathy type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CCDC78 Gene Centronuclear myopathy type 4.
Test Details
The CCDC78 gene is associated with centronuclear myopathy type 4, which is a rare genetic disorder that affects muscle function. This condition is characterized by weakness and wasting of the muscles, particularly those in the face, neck, and upper limbs.
NGS genetic testing can be used to identify mutations in the CCDC78 gene, which can confirm a diagnosis of centronuclear myopathy type 4. This testing involves sequencing the DNA of the patient to look for changes in the genetic code that may be causing the disorder.
Identifying the specific genetic mutation can help doctors develop a personalized treatment plan for the patient, which may include physical therapy, medication, or surgery. It can also help with genetic counseling and family planning, as family members may be at risk of inheriting the condition.
Test Name | CCDC78 Gene Centronuclear myopathy type 4 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 CCDC78 Gene Centronuclear myopathy type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CCDC78 Gene Centronuclear myopathy type 4 |
Test Details |
The CCDC78 gene is associated with centronuclear myopathy type 4, which is a rare genetic disorder that affects muscle function. This condition is characterized by weakness and wasting of the muscles, particularly those in the face, neck, and upper limbs. NGS genetic testing can be used to identify mutations in the CCDC78 gene, which can confirm a diagnosis of centronuclear myopathy type 4. This testing involves sequencing the DNA of the patient to look for changes in the genetic code that may be causing the disorder. Identifying the specific genetic mutation can help doctors develop a personalized treatment plan for the patient, which may include physical therapy, medication, or surgery. It can also help with genetic counseling and family planning, as family members may be at risk of inheriting the condition. |