Short Description

NGS genetic DNA test detecets for variant and mutation detection in AFG3L2 gene for Spastic ataxia type 5, autosomal recessive

PreTest Information

Clinical History of Patient who is going for AFG3L2 Gene Spastic ataxia type 5, autosomal recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AFG3L2 Gene Spastic ataxia type 5, autosomal recessive

Detail Description

AFG3L2 Gene Spastic Ataxia Type 5: Symptoms, Diagnosis, and Cost of NGS Genetic DNA Test in India

Spastic ataxia type 5 (SPAX5) is a rare neurological disorder that affects the cerebellum and spinal cord. It is caused by mutations in the AFG3L2 gene, which encodes a protein that is important for the function of mitochondria, the energy-producing structures in cells. SPAX5 is inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Symptoms of SPAX5

The symptoms of SPAX5 typically appear in childhood or adolescence and worsen over time. They may include:

• Difficulty walking
• Uncoordinated movements
• Muscle stiffness (spasticity)
• Tremors
• Speech difficulties
• Difficulty swallowing
• Vision problems
• Cognitive impairment

SPAX5 is a progressive disorder, meaning that symptoms will continue to worsen over time. In some cases, individuals with SPAX5 may become wheelchair-bound.

Diagnosis of SPAX5

SPAX5 is diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. A doctor may perform a neurological exam to assess the patient's symptoms and look for signs of SPAX5. Imaging studies such as MRI or CT scans may be used to look for abnormalities in the brain or spinal cord. Genetic testing is the most reliable way to diagnose SPAX5. A blood or saliva sample can be tested for mutations in the AFG3L2 gene.

NGS Genetic DNA Test for SPAX5

The cost of NGS (next-generation sequencing) genetic DNA testing for SPAX5 in India is around INR 20,000. This test involves sequencing the entire AFG3L2 gene to look for mutations that may be causing SPAX5. NGS is a highly accurate and efficient method of genetic testing that can identify mutations in multiple genes simultaneously. Genetic testing can help confirm a diagnosis of SPAX5, provide information about the inheritance pattern of the condition, and inform decisions about family planning.

Conclusion

SPAX5 is a rare neurological disorder caused by mutations in the AFG3L2 gene. Symptoms typically appear in childhood or adolescence and worsen over time. Diagnosis of SPAX5 involves a combination of clinical evaluation, genetic testing, and imaging studies. NGS genetic DNA testing for SPAX5 in India costs around INR 20,000. Genetic testing can help confirm a diagnosis, inform family planning decisions, and provide information about the inheritance pattern of the condition.

If you suspect that you or a loved one may have SPAX5, it is important to speak with a healthcare professional for diagnosis and treatment options.

For more information about genetic testing and SPAX5, visit DNA Labs India.