UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test
UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose Beta-ureidopropionase deficiency by identifying mutations in the UPB1 gene using Next Generation Sequencing technology.
- Test Code
- 4642
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. Genetic counseling is recommended.
Method: Blood or Saliva Collection
Laboratory Analysis
Sample will be collected by a trained phlebotomist using sterile equipment.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Keep the area clean.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Beta-ureidopropionase deficiency by identifying mutations in the UPB1 gene using Next Generation Sequencing technology.
How to Prepare
- Ensure proper patient identification
- Use sterile collection tubes
- Label samples correctly
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic counseling is recommended before and after testing to understand the implications of results and guide management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Pathogenic variant detected
Consistent with Beta-ureidopropionase deficiency. Clinical correlation and genetic counseling recommended.
No pathogenic variant detected
Unlikely to have Beta-ureidopropionase deficiency based on this gene. Consider other causes if symptoms persist.
If symptoms of Beta-ureidopropionase deficiency are present, such as developmental delay or seizures, or if there is a family history of the disorder.
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for uncertain or inconclusive results
Frequently Asked Questions
What is Beta-ureidopropionase deficiency?
What causes Beta-ureidopropionase deficiency?
What are the symptoms of Beta-ureidopropionase deficiency?
How is Beta-ureidopropionase deficiency diagnosed?
What is the UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test?
How much does the UPB1 Gene Test cost?
What sample is required for the test?
How long does it take to get results?
Is home sample collection available for this test?
What should I do if I have a family history of Beta-ureidopropionase deficiency?
Are there any risks associated with the genetic test?
How accurate is the NGS genetic test for Beta-ureidopropionase deficiency?
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Reference Laboratory Services
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