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DNA Labs India

UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test

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UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test

Short Name: UPB1 Gene NGS Test

Also known as: BUP deficiency, UPB1 deficiency

UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 3, 2026

Overview

The purpose of the UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test is to identify mutations in the UPB1 gene that cause beta-ureidopropionase deficiency. This test aids in confirming diagnosis, guiding treatment and management plans, facilitating genetic counseling for families, and enabling early intervention to mitigate symptoms such as developmental delays and seizures.

Test Code
5671
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS
Step 1

Sample Collection

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with beta-ureidopropionase deficiency. No fasting is required.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood draw by trained phlebotomist.

Step 3

Report Delivery

Sample sent to lab for processing.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No special preparation is needed.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and delivery.

About This Test

Who Should Get This Test

The purpose of the UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test is to identify mutations in the UPB1 gene that cause beta-ureidopropionase deficiency. This test aids in confirming diagnosis, guiding treatment and management plans, facilitating genetic counseling for families, and enabling early intervention to mitigate symptoms such as developmental delays and seizures.

How to Prepare

  • Collect blood sample or extracted DNA or one drop of blood on FTA card as per standard procedures.
  • Ensure proper labeling and handling of samples.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic diagnosis is crucial for managing metabolic disorders like beta-ureidopropionase deficiency."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample Volume5 ml blood or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples stable for 48 hours at room temperature
DNA samples stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume

Understanding Your Results

Results from the UPB1 Gene NGS Genetic Test indicate the presence or absence of mutations in the UPB1 gene. A positive result confirms beta-ureidopropionase deficiency, while a negative result may require further clinical evaluation.
Positive: Mutation detected, confirms deficiency
Negative: No mutation, but clinical correlation needed
⚠️ When to Consult a Doctor:

Consult a healthcare provider or genetic counselor if experiencing symptoms such as delayed development, seizures, or muscle weakness, or if there is a family history of beta-ureidopropionase deficiency.

Limitations

  • ⚠May not detect all mutations
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising or infection.
  • ●Genetic testing may have psychological implications; genetic counseling is advised.

Interfering Factors

  • ●Sample quality
  • ●Technical limitations of NGS

Frequently Asked Questions

What is UPB1 Gene Beta-ureidopropionase deficiency?
It is a rare genetic condition caused by mutations in the UPB1 gene, leading to impaired metabolism of proteins and nucleic acids, resulting in symptoms like developmental delays and seizures.
What are the common symptoms of this deficiency?
Symptoms include delayed development, intellectual disability, seizures, muscle weakness, poor muscle tone, ataxia, and abnormal movements.
How is UPB1 Gene Beta-ureidopropionase deficiency diagnosed?
Diagnosis is primarily through genetic testing, such as NGS of the UPB1 gene, supported by biochemical assays and imaging studies.
What is the cost of the NGS Genetic Test for this condition?
The test costs INR 20,000 at DNA Labs India, with possible variations based on laboratory and specific tests performed.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to receive test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider getting tested for UPB1 gene deficiency?
Individuals showing symptoms such as developmental delays or seizures, or those with a family history of the condition, should consider testing after genetic counseling.
What is NGS technology used in this test?
Next-generation sequencing (NGS) is an advanced genetic testing method that sequences the UPB1 gene to identify mutations associated with beta-ureidopropionase deficiency.
Is this test covered by insurance schemes like PMJAY or CGHS?
Coverage varies; it is advisable to check with specific insurance schemes as this test may not be universally covered.
How should I interpret the test results?
Results should be interpreted by a genetic counselor or healthcare provider; a positive result indicates mutations linked to the deficiency, while a negative result may require further evaluation.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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