Short Description

NGS genetic DNA test detecets for variant and mutation detection in SPEG gene for Centronuclear myopathy type 5

PreTest Information

Clinical History of Patient who is going for SPEG Gene Centronuclear myopathy type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SPEG Gene Centronuclear myopathy type 5

Detail Description

SPEG Gene Centronuclear Myopathy Type 5 NGS Genetic DNA Test

Centronuclear myopathy is a rare genetic disorder that affects the muscles, causing weakness and wasting. It is caused by mutations in several genes, including the SPEG gene. SPEG gene centronuclear myopathy type 5 (CNM5) is a specific subtype of this disorder, caused by mutations in the SPEG gene.

Symptoms of SPEG Gene Centronuclear Myopathy Type 5

Individuals with SPEG gene CNM5 typically experience muscle weakness and wasting, which usually begins in childhood or adolescence. The weakness may affect the muscles of the face, neck, and limbs, and may progress over time. Some individuals may also experience respiratory problems, such as difficulty breathing or frequent infections. In severe cases, the disorder can lead to significant disability and reduced life expectancy.

Diagnosis

Diagnosis of SPEG gene CNM5 typically involves a combination of clinical evaluation, genetic testing, and muscle biopsy. During a clinical evaluation, a healthcare provider will assess a patient's symptoms and medical history. Genetic testing involves analyzing a patient's DNA for mutations in the SPEG gene, which can confirm a diagnosis of CNM5. Muscle biopsy involves removing a small sample of muscle tissue for analysis, which can help to assess the severity of the muscle weakness and identify any abnormalities that may be present.

NGS Genetic DNA Test

Next-generation sequencing (NGS) is a type of genetic testing that allows for the simultaneous analysis of multiple genes. This can be particularly useful in cases of rare genetic disorders, such as SPEG gene CNM5, where mutations may be present in multiple genes. NGS can provide a more comprehensive analysis of a patient's DNA, which can help to identify the specific genetic mutation that is causing the disorder.

Cost of SPEG Gene CNM5 NGS Genetic DNA Test

The cost of genetic testing can vary depending on the specific test and the laboratory performing the analysis. In India, the cost of SPEG gene CNM5 NGS genetic DNA testing is typically around INR 20,000. However, it is important to note that this cost may vary depending on the laboratory and any additional testing or consultations that may be required.

Conclusion

SPEG gene centronuclear myopathy type 5 is a rare genetic disorder that can cause significant muscle weakness and disability. Diagnosis typically involves a combination of clinical evaluation, genetic testing, and muscle biopsy. Next-generation sequencing genetic testing can provide a more comprehensive analysis of a patient's DNA, which can help to identify the specific genetic mutation causing the disorder. The cost of SPEG gene CNM5 NGS genetic DNA testing in India is typically around INR 20,000.