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CCDC78 Gene Centronuclear Myopathy Type 4 Genetic Test

4,400 د.إ

-21%

The CCDC78 gene centronuclear myopathy type 4 genetic test is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations in the CCDC78 gene, which are linked to the development of centronuclear myopathy type 4 (CNM4). This condition is a rare genetic disorder characterized by muscle weakness and abnormalities in the placement of nuclei within muscle cells. The test plays a crucial role in the early detection and management of the disease, offering insights that can guide treatment options and genetic counseling.

The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of specific genetic alterations in the CCDC78 gene. This test is particularly valuable for individuals with a family history of centronuclear myopathy or those exhibiting symptoms related to the condition, enabling them to make informed decisions regarding their health and family planning.

The cost of the CCDC78 gene centronuclear myopathy type 4 genetic test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to accurately identify the genetic mutation associated with the condition, offering peace of mind and a clear path forward for affected individuals and their families.

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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.