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 Beta-ureidopropionase deficiency

Detail Description

UPB1 Gene Beta-ureidopropionase Deficiency NGS Genetic DNA Test

DNA Labs India offers a comprehensive genetic testing service that can help diagnose Beta-ureidopropionase deficiency (BUPD), a rare genetic disorder caused by mutations in the UPB1 gene. The test costs INR 20,000 and is performed using Next Generation Sequencing (NGS) technology, which enables the analysis of large amounts of genetic data.

What is Beta-ureidopropionase Deficiency?

Beta-ureidopropionase deficiency is a rare genetic disorder that affects the breakdown of certain amino acids in the body. This disorder is caused by mutations in the UPB1 gene, which provides instructions for making an enzyme called beta-ureidopropionase. The enzyme is involved in the breakdown of uracil and thymine, which are building blocks of DNA and RNA.

Individuals with BUPD have reduced levels of beta-ureidopropionase, which leads to an accumulation of uracil and thymine in the body. This can cause a range of symptoms, including developmental delay, intellectual disability, seizures, and abnormal movements.

Symptoms of BUPD

The symptoms of BUPD can vary widely, even among individuals with the same genetic mutation. Some common symptoms include:

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

It is important to note that not all individuals with BUPD will experience all of these symptoms, and the severity of symptoms can also vary widely.

Diagnosis of BUPD

BUPD is diagnosed through genetic testing, which can identify mutations in the UPB1 gene that cause the disorder. DNA Labs India offers a comprehensive NGS genetic test for BUPD that can identify mutations in the UPB1 gene with high accuracy. The test costs INR 20,000 and is performed using a small blood or saliva sample.

If you suspect that you or someone you know may have BUPD, it is important to speak with a healthcare provider who can help arrange for genetic testing.

Conclusion

BUPD is a rare genetic disorder caused by mutations in the UPB1 gene. It can cause a range of symptoms, including developmental delay, intellectual disability, seizures, and abnormal movements. DNA Labs India offers a comprehensive genetic test for BUPD that can identify mutations in the UPB1 gene with high accuracy. The test costs INR 20,000 and is performed using NGS technology. If you suspect that you or someone you know may have BUPD, it is important to speak with a healthcare provider who can help arrange for genetic testing.

For more information about our genetic testing services, please visit the DNA Labs India website.