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UMPS Gene Orotic aciduria NGS Genetic Test

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UMPS Gene Orotic aciduria NGS Genetic Test

Short Name: UMPS Gene Orotic Aciduria NGS Test

UMPS Gene Orotic aciduria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the UMPS Gene Orotic Aciduria NGS Genetic Test is to identify mutations in the UMPS gene responsible for orotic aciduria, enabling accurate diagnosis, family carrier screening, and informed management decisions.

Test Code
2197
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

A genetic counseling session is recommended to draw a pedigree chart of family members affected with orotic aciduria. Clinical history of the patient should be provided.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Wait for report delivery in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor for pedigree analysis and provide clinical history.
2
During the Test:Blood sample collection using standard phlebotomy techniques.
3
After the Test:Report will be delivered online or via email/WhatsApp in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of the UMPS Gene Orotic Aciduria NGS Genetic Test is to identify mutations in the UMPS gene responsible for orotic aciduria, enabling accurate diagnosis, family carrier screening, and informed management decisions.

How to Prepare

  • Blood sample required
  • FTA card option available for convenient collection

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for UMPS gene mutations is crucial for diagnosing orotic aciduria, enabling early intervention and family planning. Consult a genetic counselor for pedigree analysis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Understanding Your Results

Results indicate the presence or absence of mutations in the UMPS gene. A positive result confirms orotic aciduria, while a negative result may require further clinical evaluation.
⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms of orotic aciduria are present, such as failure to thrive, poor feeding, or developmental delays, especially with a family history of metabolic disorders.

Frequently Asked Questions

What is UMPS gene orotic aciduria?
UMPS gene orotic aciduria is a rare genetic disorder caused by mutations in the UMPS gene, leading to deficient UMP synthase enzyme activity and impaired pyrimidine metabolism.
What are the symptoms of UMPS gene orotic aciduria?
Symptoms include failure to thrive, poor feeding, vomiting, diarrhea, jaundice, anemia, developmental delay, intellectual disability, behavioral problems, and seizures.
How is the UMPS Gene Orotic Aciduria NGS Genetic Test performed?
The test uses next-generation sequencing (NGS) to analyze the UMPS gene from a blood or DNA sample, detecting mutations associated with orotic aciduria.
What is the cost of the test in India?
The cost is INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should consider getting this genetic test?
Individuals with symptoms of orotic aciduria, such as failure to thrive or developmental delays, or those with a family history of the disorder should consider testing.
Is the test covered by insurance or government schemes?
Coverage varies by insurance provider and scheme; check with your insurer or schemes like PMJAY, CGHS, etc., for eligibility.
What is NGS technology used in this test?
NGS, or next-generation sequencing, is a advanced genetic testing method that can analyze multiple genes simultaneously, making it efficient for diagnosing rare disorders.
Can this test be used for prenatal diagnosis?
Consult a genetic counselor for prenatal testing options, as this test may be applicable in certain cases with family history.
What are the risks associated with the test?
The test involves a standard blood draw with minimal risks, such as minor bruising or infection at the site.
How accurate is the UMPS Gene Orotic Aciduria NGS Genetic Test?
NGS is highly accurate for detecting gene mutations, but interpretation should be done by a qualified geneticist or healthcare provider.
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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Your medical data is protected under Indian law.

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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