Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERLIN1 gene for SPG62, ERLIN1 related

PreTest Information

Clinical History of Patient who is going for ERLIN1 Gene SPG62, ERLIN1 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ERLIN1 Gene SPG62, ERLIN1 related

Detail Description

ERLIN1 Gene SPG62 - Symptoms, Diagnosis and NGS Genetic DNA Test Cost INR 20000

ERLIN1 gene SPG62 is a rare genetic disorder that affects the nervous system. It is caused by mutations in the ERLIN1 gene, which provides instructions for making a protein that is involved in the maintenance and regulation of the endoplasmic reticulum (ER) - a network of membranes within cells that is responsible for protein synthesis and lipid metabolism.

Individuals with ERLIN1 gene SPG62 experience progressive muscle stiffness and weakness, which typically begins in the lower limbs and spreads to the upper limbs. Other symptoms may include spasticity, difficulty with balance and coordination, and impaired speech. The severity and progression of symptoms can vary widely among affected individuals, even within the same family.

Diagnosis of ERLIN1 Gene SPG62

Diagnosis of ERLIN1 gene SPG62 is typically made through a combination of clinical evaluation, genetic testing, and imaging studies. A neurological examination may reveal signs of muscle weakness, spasticity, or other neurological abnormalities. Imaging studies, such as magnetic resonance imaging (MRI), may be used to identify structural abnormalities in the brain or spinal cord.

Genetic testing is the most definitive way to diagnose ERLIN1 gene SPG62. This typically involves a next-generation sequencing (NGS) test, which can detect mutations in the ERLIN1 gene. NGS tests are highly accurate and can detect even rare genetic mutations that may be missed by other types of genetic tests.

NGS Genetic DNA Test Cost for ERLIN1 Gene SPG62

The cost of an NGS genetic DNA test for ERLIN1 gene SPG62 in India is typically around INR 20,000. This may vary depending on the specific testing laboratory and the complexity of the test.

It is important to note that genetic testing for ERLIN1 gene SPG62 may not be covered by insurance, as it is considered a rare disease. However, many testing laboratories offer financial assistance programs or payment plans to help make testing more accessible.

Conclusion

ERLIN1 gene SPG62 is a rare genetic disorder that can cause progressive muscle stiffness and weakness. Diagnosis of this condition typically involves a combination of clinical evaluation, imaging studies, and genetic testing. NGS genetic DNA testing is the most definitive way to diagnose ERLIN1 gene SPG62, and typically costs around INR 20,000 in India.

If you or someone you know is experiencing symptoms of ERLIN1 gene SPG62, it is important to speak with a healthcare provider to determine the best course of action and to explore testing options.

SPG62 (Spastic Paraplegia Type 62) is a rare hereditary neurodegenerative disorder that is caused by mutations in the ERLIN1 gene. It is characterized by progressive muscle stiffness and weakness in the lower limbs, leading to difficulty in walking. Mutations in the ERLIN1 gene can disrupt the normal functioning of cells and contribute to the neurological symptoms seen in SPG62.

An NGS (Next-Generation Sequencing) genetic DNA test for ERLIN1-related SPG62 involves sequencing the ERLIN1 gene to identify mutations that are responsible for the condition. This type of genetic testing can help diagnose individuals suspected of having SPG62 or those who may carry mutations in the ERLIN1 gene.

If you suspect that you or someone you know might have SPG62 or carry a mutation in the ERLIN1 gene, it's important to consult with a medical professional or a genetic counselor. They can guide you through the testing process, interpret the results, and provide appropriate recommendations for medical management and support.