Short Description

NGS genetic DNA test detecets for variant and mutation detection in CPS1 gene for Carbamoylphosphate synthetase I deficiency

PreTest Information

Clinical History of Patient who is going for CPS1 Gene Carbamoylphosphate synthetase I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Carbamoylphosphate synthetase I deficiency

Detail Description

CPS1 Gene Carbamoylphosphate Synthetase I Deficiency NGS Genetic DNA Test

CPS1 Gene Carbamoylphosphate Synthetase I Deficiency is a rare genetic disorder that affects the body's ability to process nitrogen. The condition is caused by a mutation in the CPS1 gene, which codes for an enzyme called carbamoylphosphate synthetase I. This enzyme is essential for the urea cycle, which is responsible for converting ammonia into urea, which can be excreted in urine.

Symptoms of CPS1 Gene Carbamoylphosphate Synthetase I Deficiency

The symptoms of CPS1 Gene Carbamoylphosphate Synthetase I Deficiency can vary in severity and can include:

• Vomiting
• Lethargy
• Hyperventilation
• Seizures
• Coma

Diagnosis of CPS1 Gene Carbamoylphosphate Synthetase I Deficiency

CPS1 Gene Carbamoylphosphate Synthetase I Deficiency can be diagnosed through genetic testing. A simple blood test can identify mutations in the CPS1 gene.

NGS Genetic DNA Test for CPS1 Gene Carbamoylphosphate Synthetase I Deficiency

Next-generation sequencing (NGS) technology allows for the rapid and accurate sequencing of entire genomes or targeted regions of the genome. NGS can be used to identify mutations in the CPS1 gene that cause Carbamoylphosphate Synthetase I Deficiency. The NGS Genetic DNA Test for CPS1 Gene Carbamoylphosphate Synthetase I Deficiency is a non-invasive test that requires only a small blood sample.

Cost of NGS Genetic DNA Test for CPS1 Gene Carbamoylphosphate Synthetase I Deficiency

The cost of the NGS Genetic DNA Test for CPS1 Gene Carbamoylphosphate Synthetase I Deficiency is INR 20,000. This cost includes the test itself as well as genetic counseling to help patients and their families understand the results of the test.

Conclusion

CPS1 Gene Carbamoylphosphate Synthetase I Deficiency is a rare genetic disorder that can have serious health consequences if left untreated. The NGS Genetic DNA Test for CPS1 Gene Carbamoylphosphate Synthetase I Deficiency is a non-invasive and accurate way to diagnose the condition and can help patients and their families make informed decisions about their healthcare.