Short Description

NGS genetic DNA test detecets for variant and mutation detection in RARS2 gene for Pontocerebellar hypoplasia type 6

PreTest Information

Clinical History of Patient who is going for RARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RARS2 Gene Pontocerebellar hypoplasia type 6

Detail Description

RARS2 Gene and Pontocerebellar Hypoplasia Type 6: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost by DNA Labs India

Pontocerebellar hypoplasia type 6 (PCH6) is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the RARS2 gene, which provides instructions for making an enzyme called mitochondrial arginyl-tRNA synthetase.

This enzyme is essential for the production of proteins within mitochondria, the energy-producing structures in cells. Mutations in the RARS2 gene disrupt the function of this enzyme, leading to a shortage of functional mitochondria in brain cells. This shortage causes the brain to develop abnormally, leading to the symptoms of PCH6.

Symptoms of Pontocerebellar Hypoplasia Type 6

The symptoms of PCH6 can vary widely depending on the severity of the condition. Some individuals may have mild symptoms, while others may be severely affected. The most common symptoms of PCH6 include:

• Delayed development of motor skills
• Weak muscle tone (hypotonia)
• Difficulty with coordination and balance (ataxia)
• Intellectual disability
• Seizures
• Difficulty with swallowing and breathing
• Visual impairment

The symptoms of PCH6 usually appear in infancy or early childhood and worsen over time.

Diagnosis of Pontocerebellar Hypoplasia Type 6

PCH6 is diagnosed based on a combination of clinical features, brain imaging studies, and genetic testing. Brain imaging studies such as magnetic resonance imaging (MRI) can reveal abnormalities in the structure of the brain that are characteristic of PCH6.

Genetic testing can confirm the diagnosis by identifying mutations in the RARS2 gene. DNA Labs India offers a Next-Generation Sequencing (NGS) genetic DNA test for PCH6 that can detect mutations in the RARS2 gene with high accuracy.

NGS Genetic DNA Test Cost in India

The cost of the NGS genetic DNA test for PCH6 at DNA Labs India is INR 20,000. This test uses advanced sequencing technology to analyze the entire RARS2 gene and identify any mutations that may be present.

NGS genetic DNA testing offers several advantages over traditional genetic testing methods. It is faster, more accurate, and can detect a wider range of genetic mutations. This makes it an ideal choice for diagnosing rare genetic disorders like PCH6.

Conclusion

Pontocerebellar hypoplasia type 6 is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the RARS2 gene, which can be detected using NGS genetic DNA testing. DNA Labs India offers this test at a cost of INR 20,000. Early diagnosis of PCH6 can help families access the appropriate medical care and support needed to manage this condition effectively.

If you suspect that you or a loved one may have PCH6, contact DNA Labs India to learn more about NGS genetic DNA testing and how it can help you get the answers you need.

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 RARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic DNA Test