Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRPS1 gene for Phosphoribosylpyrophosphate synthetase superactivity

PreTest Information

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

Detail Description

PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic DNA Test

DNA Labs India offers a genetic DNA test for PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity, which is a rare inherited disorder that affects the production of purines. This test costs INR 20,000 and can help diagnose the condition in individuals who are experiencing symptoms.

Symptoms

PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity can cause a range of symptoms, including:

• Hyperuricemia
• Gout
• Kidney stones
• Neurological problems
• Developmental delays
• Intellectual disability

The severity of symptoms can vary widely from person to person, and some individuals may not experience any symptoms at all.

Diagnosis

PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity can be diagnosed through genetic testing. This test looks for mutations in the PRPS1 gene, which is responsible for producing an enzyme called phosphoribosylpyrophosphate synthetase.

If a mutation is found, it means that the individual has inherited the disorder and is at risk for developing symptoms. It is important to note that not all individuals with a mutation in the PRPS1 gene will develop symptoms.

Cost

The PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic DNA Test offered by DNA Labs India costs INR 20,000.

It is important to speak with a genetic counselor or healthcare provider before undergoing genetic testing to understand the potential benefits and risks, as well as the implications of the test results.

Conclusion

PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity is a rare inherited disorder that can cause a range of symptoms, including hyperuricemia, gout, kidney stones, neurological problems, developmental delays, and intellectual disability.

Genetic testing can help diagnose the condition and is offered by DNA Labs India for a cost of INR 20,000. It is important to speak with a healthcare provider or genetic counselor before undergoing testing to understand the potential benefits and risks.

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 Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic DNA Test