Short Description

NGS genetic DNA test detecets for variant and mutation detection in VPS53 gene for Pontocerebellar hypoplasia type 2E

PreTest Information

Clinical History of Patient who is going for VPS53 Gene Pontocerebellar hypoplasia type 2E NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VPS53 Gene Pontocerebellar hypoplasia type 2E

Detail Description

VPS53 Gene Pontocerebellar Hypoplasia Type 2E NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Have you or your family members been experiencing symptoms such as developmental delays, seizures, or difficulty with movement and balance? These could be indications of a rare genetic disorder called Pontocerebellar Hypoplasia (PCH) Type 2E, which is caused by mutations in the VPS53 gene.

If you suspect that you or a loved one may have this condition, DNA Labs India offers an NGS Genetic DNA Test that can help diagnose PCH Type 2E. In this blog, we will discuss the symptoms, diagnosis, and cost of this test in detail.

Symptoms of Pontocerebellar Hypoplasia Type 2E

Pontocerebellar Hypoplasia Type 2E is a rare genetic disorder that affects the brain and spinal cord. Symptoms of this condition can vary widely, but some common signs and symptoms include:

• Developmental delays, such as delayed sitting, crawling, or walking
• Seizures
• Difficulty with movement and balance
• Weakness in the muscles used for breathing and swallowing
• Intellectual disability
• Speech difficulties

It is important to note that not all individuals with PCH Type 2E will experience these symptoms, and the severity of symptoms can also vary widely.

Diagnosing Pontocerebellar Hypoplasia Type 2E

Diagnosing PCH Type 2E can be challenging, as symptoms can be similar to other neurological disorders. However, genetic testing can help confirm a diagnosis. DNA Labs India offers an NGS Genetic DNA Test that can identify mutations in the VPS53 gene, which is responsible for PCH Type 2E.

This test involves collecting a small sample of blood or saliva, which is then analyzed in a laboratory. The results of the test can help confirm a diagnosis of PCH Type 2E, which can then guide treatment and management of symptoms.

Cost of the NGS Genetic DNA Test for PCH Type 2E

The cost of the NGS Genetic DNA Test for PCH Type 2E at DNA Labs India is INR 20000. This test is not typically covered by insurance, so it is important to discuss payment options with your healthcare provider or DNA Labs India.

Conclusion

Pontocerebellar Hypoplasia Type 2E is a rare genetic disorder that can cause a wide range of symptoms, including developmental delays, seizures, and difficulty with movement and balance. If you suspect that you or a loved one may have this condition, DNA Labs India offers an NGS Genetic DNA Test that can help confirm a diagnosis. The cost of this test is INR 20000, and it is important to discuss payment options with your healthcare provider or DNA Labs India.

Early diagnosis and management of symptoms can help improve outcomes for individuals with PCH Type 2E, so if you suspect that you or a loved one may have this condition, speak to a healthcare provider or contact DNA Labs India today.

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 VPS53 Gene Pontocerebellar hypoplasia type 2E NGS Genetic DNA Test