Short Description

NGS genetic DNA test detecets for variant and mutation detection in AP5Z1 gene for SPG48

PreTest Information

Clinical History of Patient who is going for AP5Z1 Gene SPG48 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AP5Z1 Gene SPG48

Detail Description

AP5Z1 Gene SPG48 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

At DNA Labs India, we provide advanced genetic testing services to help people learn more about their health and genetic makeup. One of the tests we offer is the AP5Z1 Gene SPG48 NGS Genetic DNA Test, which can help diagnose certain genetic conditions and disorders.

What is the AP5Z1 Gene SPG48 NGS Genetic DNA Test?

The AP5Z1 Gene SPG48 NGS Genetic DNA Test is a type of genetic test that analyzes the AP5Z1 gene, which is associated with a rare genetic disorder known as hereditary spastic paraplegia (HSP). HSP is a group of inherited neurological disorders that affect the lower limbs, causing muscle stiffness and weakness.

What are the Symptoms of SPG48?

SPG48 is a rare form of HSP that is caused by mutations in the AP5Z1 gene. Symptoms of SPG48 typically appear in early childhood and may include:

• Delayed motor development
• Muscle weakness and stiffness in the legs
• Difficulty walking or running
• Difficulty with balance and coordination

How is the Test Done?

The AP5Z1 Gene SPG48 NGS Genetic DNA Test is a simple blood test that can be done at any of our DNA Labs India locations. The test analyzes your DNA to determine if you have any mutations in the AP5Z1 gene that may be associated with SPG48.

What is the Cost of the AP5Z1 Gene SPG48 NGS Genetic DNA Test?

The cost of the AP5Z1 Gene SPG48 NGS Genetic DNA Test at DNA Labs India is INR:20000. This includes the cost of the test, genetic counseling, and any necessary follow-up appointments.

How is the Test Helpful?

The AP5Z1 Gene SPG48 NGS Genetic DNA Test can be helpful in diagnosing SPG48 and other forms of HSP. Early diagnosis can help individuals and families better understand their condition, manage their symptoms, and plan for the future.

Conclusion

If you or a loved one are experiencing symptoms of HSP or have a family history of the condition, the AP5Z1 Gene SPG48 NGS Genetic DNA Test may be helpful in providing a diagnosis and guiding treatment. At DNA Labs India, we offer advanced genetic testing services to help you learn more about your health and genetic makeup. Contact us today to schedule a consultation.