Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRPS1 gene for Arts syndrome

PreTest Information

Clinical History of Patient who is going for PRPS1 Gene Arts syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PRPS1 Gene Arts syndrome

Detail Description

PRPS1 Gene Arts Syndrome NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

PRPS1 Gene Arts Syndrome is a rare genetic disorder that affects the nervous system and causes developmental delay, intellectual disability, and other symptoms. The disorder is caused by mutations in the PRPS1 gene, which provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1. This enzyme is involved in the production of nucleotides, which are the building blocks of DNA and RNA.

If you suspect that you or a loved one may have PRPS1 Gene Arts Syndrome, a genetic test can help confirm the diagnosis. DNA Labs India offers an NGS (Next-Generation Sequencing) Genetic DNA Test for PRPS1 Gene Arts Syndrome at a cost of INR 20000.

Symptoms of PRPS1 Gene Arts Syndrome

The symptoms of PRPS1 Gene Arts Syndrome can vary widely in severity and may include:

• Developmental delay
• Intellectual disability
• Speech and language difficulties
• Behavioral problems
• Seizures
• Muscle weakness
• Abnormal movements

Some people with PRPS1 Gene Arts Syndrome may also have vision problems, hearing loss, or other physical abnormalities.

Diagnosis of PRPS1 Gene Arts Syndrome

PRPS1 Gene Arts Syndrome is diagnosed through genetic testing. The NGS Genetic DNA Test offered by DNA Labs India can detect mutations in the PRPS1 gene that are associated with the disorder. This test can be performed on a blood sample or a sample of saliva.

If a genetic test confirms a diagnosis of PRPS1 Gene Arts Syndrome, further testing may be recommended to evaluate the extent of the disorder and to identify any other health problems that may be present.

Cost of PRPS1 Gene Arts Syndrome NGS Genetic DNA Test

The cost of the NGS Genetic DNA Test for PRPS1 Gene Arts Syndrome at DNA Labs India is INR 20000. This includes the cost of the genetic test itself as well as any consultation fees or other charges associated with the testing process.

Conclusion

If you or a loved one is experiencing symptoms of PRPS1 Gene Arts Syndrome, it is important to seek a diagnosis as soon as possible. The NGS Genetic DNA Test offered by DNA Labs India can provide a definitive diagnosis and help guide treatment and management of the disorder. Contact DNA Labs India today to learn more about this test and to schedule an appointment.

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 PRPS1 Gene Arts syndrome NGS Genetic DNA Test