Short Description

NGS genetic DNA test detecets for variant and mutation detection in CCDC78 gene for Centronuclear myopathy type 4

PreTest 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

Detail Description

CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Centronuclear myopathy (CNM) is a rare genetic disorder that affects the muscles. It is caused by mutations in the CCDC78 gene. CNM can be inherited in an autosomal dominant or recessive manner. It is characterized by muscle weakness and wasting, especially in the face, neck, and upper limbs. The severity of the disease varies widely from person to person.

Symptoms of CNM

The symptoms of CNM usually appear in infancy or early childhood. They include:

• Muscle weakness and wasting, especially in the face, neck, and upper limbs
• Poor muscle tone
• Difficulty swallowing and breathing
• Scoliosis
• Delayed motor milestones
• Joint contractures
• Foot drop

Diagnosis of CNM

CNM can be diagnosed through a combination of clinical examination, genetic testing, and muscle biopsy. The genetic testing can help confirm the diagnosis and identify the specific genetic mutation causing the condition. The muscle biopsy can help determine the severity and type of muscle abnormalities.

CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic DNA Test Cost

The CCDC78 gene Centronuclear Myopathy Type 4 NGS Genetic DNA Test costs around INR 20,000. This test uses next-generation sequencing (NGS) technology to analyze the CCDC78 gene and detect any mutations that may be causing CNM. The test is highly accurate and can provide a definitive diagnosis in many cases.

Conclusion

CNM is a rare genetic disorder that can cause significant muscle weakness and wasting. It is caused by mutations in the CCDC78 gene. The CCDC78 gene Centronuclear Myopathy Type 4 NGS Genetic DNA Test can help confirm the diagnosis and identify the specific genetic mutation causing the condition. The cost of the test is around INR 20,000. If you or a loved one is experiencing symptoms of CNM, it is important to speak with a healthcare provider and consider genetic testing.

At DNA Labs India, we offer a wide range of genetic tests, including the CCDC78 gene Centronuclear Myopathy Type 4 NGS Genetic DNA Test. Our tests are highly accurate and affordable. Contact us today to learn more about our services.