Short Description

NGS genetic DNA test detecets for variant and mutation detection in UPB1 gene for Beta-ureidopropionase deficiency

PreTest Information

Clinical History of Patient who is going for UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic DNA Test gene UPB1

Detail Description

UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

UPB1 gene beta-ureidopropionase deficiency is a rare genetic condition that affects the body's ability to metabolize certain substances, including proteins and nucleic acids. It is caused by mutations in the UPB1 gene, which provides instructions for making an enzyme called beta-ureidopropionase. This enzyme is involved in the breakdown of amino acids and nucleic acids, which are important building blocks of proteins and DNA.

Symptoms of UPB1 Gene Beta-ureidopropionase Deficiency

The symptoms of UPB1 gene beta-ureidopropionase deficiency can vary from person to person and may include:

• Delayed development
• Intellectual disability
• Seizures
• Muscle weakness
• Poor muscle tone
• Ataxia (problems with balance and coordination)
• Abnormal movements

Diagnosis of UPB1 Gene Beta-ureidopropionase Deficiency

UPB1 gene beta-ureidopropionase deficiency can be diagnosed through genetic testing. This may include next-generation sequencing (NGS) of the UPB1 gene, which can identify mutations that are associated with the condition. Other tests, such as biochemical assays and imaging studies, may also be used to help diagnose and monitor the condition.

NGS Genetic DNA Test Cost for UPB1 Gene Beta-ureidopropionase Deficiency

The cost of NGS genetic DNA testing for UPB1 gene beta-ureidopropionase deficiency in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and the specific tests that are performed. It is important to speak with a genetic counselor or healthcare provider to determine the most appropriate testing options and costs for a specific individual.

Conclusion

UPB1 gene beta-ureidopropionase deficiency is a rare genetic condition that can have a significant impact on an individual's health and quality of life. Genetic testing, including NGS, can help diagnose the condition and guide treatment and management strategies. If you or a loved one are experiencing symptoms of UPB1 gene beta-ureidopropionase deficiency, speak with a healthcare provider or genetic counselor to learn more about testing options and costs.

At DNA Labs India, we offer a range of genetic testing services, including NGS testing for UPB1 gene beta-ureidopropionase deficiency. Our team of experienced genetic counselors and laboratory professionals are dedicated to providing accurate and timely testing results to help guide patient care and management.

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 UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic DNA Test