Short Description

NGS genetic DNA test detecets for variant and mutation detection in ENTPD1 gene for SPG64

PreTest Information

Clinical History of Patient who is going for ENTPD1 Gene SPG64 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ENTPD1 Gene SPG64

Detail Description

What is ENTPD1 Gene SPG64 NGS Genetic DNA Test?

The ENTPD1 gene, also known as SPG64, is associated with hereditary spastic paraplegia (HSP). HSP is a rare genetic disorder that affects the nervous system, causing weakness and stiffness in the legs. The ENTPD1 Gene SPG64 NGS Genetic DNA Test is a diagnostic test that identifies mutations in the ENTPD1 gene to confirm a diagnosis of HSP.

Symptoms of HSP

The symptoms of HSP can vary depending on the severity of the condition. Some common symptoms include:

• Weakness and stiffness in the legs
• Difficulty walking
• Loss of muscle tone
• Difficulty with balance and coordination
• Numbness or tingling in the legs

Diagnosis of HSP

HSP is diagnosed through a combination of physical examination, medical history, and genetic testing. The ENTPD1 Gene SPG64 NGS Genetic DNA Test is one of the genetic tests used to confirm a diagnosis of HSP.

Cost of ENTPD1 Gene SPG64 NGS Genetic DNA Test

The cost of the ENTPD1 Gene SPG64 NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the laboratory and location.

Advantages of ENTPD1 Gene SPG64 NGS Genetic DNA Test

The ENTPD1 Gene SPG64 NGS Genetic DNA Test is a highly accurate and reliable test for diagnosing HSP. It can identify mutations in the ENTPD1 gene with a high degree of accuracy, allowing for early diagnosis and appropriate treatment.

Conclusion

If you or a loved one are experiencing symptoms of HSP, it is important to seek medical attention and undergo genetic testing. The ENTPD1 Gene SPG64 NGS Genetic DNA Test is a valuable tool for confirming a diagnosis of HSP and guiding appropriate treatment. With a cost of approximately INR 20,000, this test is a worthwhile investment in your health and wellbeing.

SPG64, also known as Hereditary Spastic Paraplegia 64, is a rare genetic disorder characterized by progressive stiffness and weakness (spasticity) in the lower limbs. It is caused by mutations in the ENTPD1 gene.

The ENTPD1 gene provides instructions for producing the enzyme ectonucleoside triphosphate diphosphohydrolase 1, also known as CD39. This enzyme is involved in the metabolism of nucleotides, which are molecules that play important roles in cellular signaling.