Short Description

NGS genetic DNA test detecets for variant and mutation detection in VPS37A gene for SPG53

PreTest Information

Clinical History of Patient who is going for VPS37A Gene SPG53 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VPS37A Gene SPG53

Detail Description

VPS37A Gene SPG53 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

SPG53 is a rare genetic disorder that affects the nervous system, causing muscle weakness and spasticity. It is caused by mutations in the VPS37A gene, which plays a role in the recycling of cellular components.

Diagnosis of SPG53 can be challenging due to its rarity, and symptoms may be mistaken for other conditions. However, genetic testing can confirm the presence of VPS37A mutations and aid in diagnosis.

Symptoms of SPG53

SPG53 typically presents in early childhood and is characterized by muscle weakness and spasticity in the lower limbs. This can lead to difficulties with walking, balance, and coordination. As the condition progresses, it may also affect the upper limbs and cause speech difficulties.

Other symptoms may include:

• Developmental delay
• Cognitive impairment
• Seizures
• Abnormal eye movements
• Joint contractures

Not all individuals with SPG53 will experience all of these symptoms, and the severity of symptoms can vary widely.

Diagnosis of SPG53

Diagnosis of SPG53 typically involves a combination of clinical evaluation and genetic testing. A neurologist may perform a physical exam to assess muscle tone and reflexes, as well as evaluate for other potential causes of the symptoms.

Genetic testing can confirm the presence of VPS37A mutations, which is necessary for a definitive diagnosis of SPG53. Next-generation sequencing (NGS) is a powerful tool for detecting genetic mutations and is often used in the diagnosis of rare genetic disorders.

Cost of SPG53 NGS Genetic DNA Test in India

The cost of an SPG53 NGS genetic DNA test in India can vary depending on the specific testing facility and the extent of the genetic analysis performed. However, on average, the cost of an NGS genetic DNA test for SPG53 in India is around INR 20,000.

It is important to note that genetic testing is not always covered by insurance, and out-of-pocket costs can be significant. However, early diagnosis can be crucial for managing symptoms and improving outcomes, making genetic testing an important investment for individuals with suspected genetic disorders.

Conclusion

SPG53 is a rare genetic disorder that can be challenging to diagnose due to its rarity and variable symptoms. However, genetic testing can confirm the presence of VPS37A mutations and aid in diagnosis. The cost of an SPG53 NGS genetic DNA test in India is around INR 20,000 on average, but early diagnosis can be crucial for managing symptoms and improving outcomes.

If you suspect that you or a loved one may have SPG53 or another genetic disorder, it is important to consult with a healthcare professional and consider genetic testing.

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 VPS37A Gene SPG53 NGS Genetic DNA Test