Short Description

NGS genetic DNA test detecets for variant and mutation detection in PSAT1 gene for Phosphoserine aminotransferase deficiency

PreTest Information

Clinical History of Patient who is going for PSAT1 Gene Phosphoserine aminotransferase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoserine aminotransferase deficiency

Detail Description

PSAT1 Gene Phosphoserine Aminotransferase Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

PSAT1 gene phosphoserine aminotransferase deficiency is a rare genetic disorder that affects the body's ability to produce serine, an amino acid that plays a critical role in the formation of proteins and other important molecules.

The disorder is caused by mutations in the PSAT1 gene, which provides instructions for making the phosphoserine aminotransferase enzyme. This enzyme is necessary for the conversion of phosphoserine to serine, and mutations in the gene can lead to a deficiency of this enzyme and a subsequent shortage of serine in the body.

Symptoms of PSAT1 Gene Phosphoserine Aminotransferase Deficiency

The symptoms of PSAT1 gene phosphoserine aminotransferase deficiency can vary widely from person to person. Some individuals may have only mild symptoms or no symptoms at all, while others may experience more severe symptoms that can affect multiple organ systems.

Some of the most common symptoms of PSAT1 gene phosphoserine aminotransferase deficiency include:

• Developmental delays
• Intellectual disability
• Seizures
• Low muscle tone (hypotonia)
• Small head size (microcephaly)
• Delayed speech and language development
• Abnormal muscle movements
• Unusual facial features

Diagnosis of PSAT1 Gene Phosphoserine Aminotransferase Deficiency

PSAT1 gene phosphoserine aminotransferase deficiency is diagnosed through genetic testing, specifically through next-generation sequencing (NGS) genetic DNA testing. This type of testing can identify mutations in the PSAT1 gene and confirm a diagnosis of the disorder.

NGS genetic DNA testing is a highly specialized and sophisticated testing method that is performed by only a handful of labs in India. DNA Labs India is one of the leading labs in the country that offers NGS genetic DNA testing for PSAT1 gene phosphoserine aminotransferase deficiency.

Cost of PSAT1 Gene Phosphoserine Aminotransferase Deficiency NGS Genetic DNA Test

The cost of PSAT1 gene phosphoserine aminotransferase deficiency NGS genetic DNA testing at DNA Labs India is INR 20,000. This cost includes the complete testing process, including sample collection, genetic sequencing, and analysis of the results.

While this cost may seem high, it is important to remember that NGS genetic DNA testing is a highly specialized and sophisticated testing method that requires advanced equipment, highly trained technicians, and specialized expertise. The cost of the test reflects the complexity and sophistication of the testing process.

Conclusion

PSAT1 gene phosphoserine aminotransferase deficiency is a rare genetic disorder that can cause a wide range of symptoms, including developmental delays, intellectual disability, seizures, and more. The disorder is diagnosed through NGS genetic DNA testing, which is performed by only a handful of labs in India.

If you suspect that you or a loved one may have PSAT1 gene phosphoserine aminotransferase deficiency, it is important to seek out the expertise of a qualified genetic testing lab like DNA Labs India. With their advanced testing methods and specialized expertise, they can help you get the answers you need to make informed decisions about your health and well-being.

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 PSAT1 Gene Phosphoserine aminotransferase deficiency NGS Genetic DNA Test