Short Description

NGS genetic DNA test detecets for variant and mutation detection in PSPH gene for Phosphoserine phosphatase deficiency

PreTest Information

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

Detail Description

PSPH Gene Phosphoserine Phosphatase Deficiency NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

Phosphoserine phosphatase deficiency is a rare genetic disorder that affects the metabolism of amino acids in the body. It is caused by mutations in the PSPH gene, which provides instructions for making an enzyme that helps break down serine, an amino acid that plays a crucial role in many biological processes. Individuals with PSPH gene mutations cannot properly metabolize serine, leading to a buildup of toxic byproducts in the body that can cause severe health problems.

Symptoms of PSPH Gene Phosphoserine Phosphatase Deficiency

The symptoms of PSPH gene phosphoserine phosphatase deficiency can vary widely depending on the severity of the condition. Some individuals may have mild or no symptoms, while others may experience severe health problems. Some common symptoms of PSPH gene phosphoserine phosphatase deficiency include:

• Developmental delay
• Intellectual disability
• Seizures
• Muscle weakness
• Poor muscle tone
• Delayed speech development
• Abnormal muscle movements
• Behavioral problems

Diagnosis of PSPH Gene Phosphoserine Phosphatase Deficiency

PSPH gene phosphoserine phosphatase deficiency is diagnosed through genetic testing, which can detect mutations in the PSPH gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it a useful tool for diagnosing rare genetic disorders like PSPH gene phosphoserine phosphatase deficiency. NGS genetic DNA testing can provide highly accurate results, making it an essential tool for diagnosing PSPH gene phosphoserine phosphatase deficiency.

PSPH Gene Phosphoserine Phosphatase Deficiency NGS Genetic DNA Test Cost in India

The cost of PSPH gene phosphoserine phosphatase deficiency NGS genetic DNA testing in India typically ranges from INR 20000 to INR 30000. The cost may vary depending on the specific laboratory or testing facility and the type of testing performed. It is important to choose a reputable laboratory with experience in genetic testing to ensure accurate and reliable results.

Conclusion

PSPH gene phosphoserine phosphatase deficiency is a rare genetic disorder that can cause severe health problems. Symptoms can vary widely depending on the severity of the condition, and diagnosis is typically made through genetic testing. NGS genetic DNA testing can provide highly accurate results, making it an essential tool for diagnosing PSPH gene phosphoserine phosphatase deficiency. The cost of testing can vary depending on the laboratory or testing facility, but it is important to choose a reputable laboratory with experience in genetic testing to ensure accurate and reliable results.

At DNA Labs India, we offer a comprehensive range of genetic testing services, including NGS genetic DNA testing for PSPH gene phosphoserine phosphatase deficiency. Our experienced team of geneticists and laboratory technicians uses state-of-the-art technology to provide accurate and reliable results. Contact us today to learn more about our services and how we can help you diagnose and manage genetic disorders like PSPH gene phosphoserine phosphatase deficiency.

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 PSPH Gene Phosphoserine phosphatase deficiency NGS Genetic DNA Test