Short Description

NGS genetic DNA test detecets for variant and mutation detection in MTPAP gene for Spastic ataxia type 4, autosomal recessive

PreTest Information

Clinical History of Patient who is going for MTPAP Gene Spastic ataxia type 4, autosomal recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MTPAP Gene Spastic ataxia type 4, autosomal recessive

Detail Description

MTPAP Gene Spastic Ataxia Type 4: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Spastic ataxia type 4 is a rare neurological disorder that affects the movement and coordination of muscles. It is caused by a mutation in the MTPAP gene, which is responsible for encoding the mitochondrial poly(A) polymerase enzyme.

Symptoms of Spastic Ataxia Type 4

The symptoms of spastic ataxia type 4 typically appear in early childhood and progressively worsen over time. These symptoms include:

• Difficulty walking
• Unsteady gait
• Stiffness and spasticity in the legs
• Tremors in the arms and legs
• Speech difficulties
• Difficulty with fine motor skills
• Intellectual disability

Diagnosis of Spastic Ataxia Type 4

Diagnosis of spastic ataxia type 4 typically involves a combination of physical examination, genetic testing, and imaging studies. The following tests may be used to diagnose this condition:

• Neurological examination
• MRI of the brain and spinal cord
• Genetic testing to identify mutations in the MTPAP gene

NGS Genetic DNA Test Cost for Spastic Ataxia Type 4

The cost of NGS genetic DNA testing for spastic ataxia type 4 in India is typically around INR 20,000. This test uses next-generation sequencing technology to identify mutations in the MTPAP gene that are associated with this condition.

NGS genetic DNA testing is a highly accurate and reliable method for diagnosing spastic ataxia type 4. This test can help healthcare providers identify the underlying genetic cause of this condition, which can be important for determining appropriate treatment options and providing genetic counseling to affected individuals and their families.

Conclusion

Spastic ataxia type 4 is a rare neurological disorder that can cause significant disability and impairment. Genetic testing using NGS technology can help diagnose this condition and guide appropriate treatment options. If you or a loved one is experiencing symptoms of spastic ataxia type 4, it is important to speak with a healthcare provider who can provide guidance and support.

At DNA Labs India, we offer NGS genetic DNA testing for a wide range of genetic conditions, including spastic ataxia type 4. Our team of experienced genetic counselors and healthcare professionals can help you understand your test results and provide guidance and support throughout the testing process. Contact us today to learn more about our genetic testing services.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MTPAP Gene Spastic ataxia type 4, autosomal recessive NGS Genetic DNA Test