Short Description

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

PreTest Information

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

Detail Description

SEPSECS Gene and Pontocerebellar Hypoplasia Type 2D: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

DNA Labs India is a leading provider of genetic testing services in India. One of the tests we offer is the Next Generation Sequencing (NGS) Genetic DNA Test, which can help diagnose a range of genetic conditions, including Pontocerebellar Hypoplasia Type 2D (PCH2D). PCH2D is a rare genetic disorder that affects the development of the brain and nervous system. In this blog, we will discuss the symptoms, diagnosis, and cost of the NGS Genetic DNA Test for PCH2D.

Symptoms of PCH2D

The symptoms of PCH2D can vary widely from person to person, but typically include:

• Low muscle tone (hypotonia)
• Difficulty with movement and coordination (ataxia)
• Intellectual disability
• Delayed development of motor skills
• Seizures

These symptoms can be present at birth or may develop over time. In some cases, individuals with PCH2D may also have vision or hearing problems, breathing difficulties, or problems with feeding and digestion.

Diagnosis of PCH2D

The diagnosis of PCH2D is typically made through a combination of clinical evaluation, imaging studies, and genetic testing. A neurologist or other specialist will evaluate the patient's symptoms, medical history, and family history to determine if PCH2D is a likely diagnosis. Imaging studies, such as MRI or CT scans, may be used to look for abnormalities in the brain and nervous system.

Genetic testing is the most definitive way to diagnose PCH2D. Specifically, testing for mutations in the SEPSECS gene can confirm a diagnosis of PCH2D. This can be done through a variety of genetic testing methods, including NGS Genetic DNA testing.

NGS Genetic DNA Test for PCH2D

The NGS Genetic DNA Test is a powerful tool for diagnosing PCH2D and other genetic conditions. This test uses advanced sequencing technology to analyze an individual's DNA and identify any mutations or variations that may be associated with PCH2D. The test can be performed on a blood or saliva sample, and results are typically available within a few weeks.

The cost of the NGS Genetic DNA Test for PCH2D at DNA Labs India is INR 20,000. This cost includes the sample collection kit, laboratory testing, and a detailed report of the results.

Conclusion

Pontocerebellar Hypoplasia Type 2D is a rare genetic condition that can cause a range of symptoms affecting the brain and nervous system. Diagnosis typically involves a combination of clinical evaluation, imaging studies, and genetic testing. The NGS Genetic DNA Test is a powerful tool for diagnosing PCH2D and other genetic conditions, and is available at DNA Labs India for INR 20,000. If you or a loved one is experiencing symptoms of PCH2D, we encourage you to speak with a healthcare provider about the possibility of genetic testing.

For more information about DNA Labs India and our genetic testing services, please visit our website.

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 SEPSECS Gene Pontocerebellar hypoplasia type 2D NGS Genetic DNA Test