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UREA CYCLE DEFECTS GENE PANEL BY NGS, EDTA BLOOD

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NABL Cap Accredited 
The Urea Cycle Defects Gene Panel uses advanced Next-Generation Sequencing (NGS) to detect mutations that impair the body’s ability to remove ammonia. Metropolis Healthcare analyzes an EDTA blood sample to identify genetic abnormalities affecting enzymes responsible for ammonia detoxification. This test supports early diagnosis in patients with unexplained vomiting, lethargy, or neurological symptoms. It also helps guide timely treatment and provides valuable insights for genetic counseling and long-term management 

  • 17 Crores+ Samples Processed
  • World Class Technology Labs
  • 25+ Years of Trust & Experience
  • Free Home Collection

Price: Rs. 21,000.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes:G0254

Frequently Asked Questions (FAQ's):

 What does the Urea Cycle Defects Gene Panel include?

This panel at Metropolis Healthcare includes NGS-based evaluation of genes involved in ammonia metabolism and urea cycle enzyme function.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-precision sequencing platforms to detect pathogenic mutations, including single-nucleotide changes and small insertions or deletions.

Who should take this test?
Individuals—especially infants or children—with recurrent vomiting, high ammonia levels, seizures, or suspected metabolic disorders should consider this test at Metropolis Healthcare.

Why is this test important?
It identifies the genetic cause of urea cycle dysfunction, supporting rapid intervention and personalized care through Metropolis Healthcare’s specialized diagnostics.

What sample is required for the test?
An EDTA blood sample is required, from which Metropolis Healthcare extracts DNA for detailed NGS analysis.

Can this test guide treatment decisions?
Yes, results from Metropolis Healthcare help clinicians tailor dietary management, medication plans, and monitoring strategies.

Is this test suitable for newborns?
Yes, Metropolis Healthcare performs this test for newborns, where early detection is critical to preventing neurological damage.

Do the results assist with genetic counseling?
Absolutely. Metropolis Healthcare provides comprehensive reports to help families understand inheritance patterns and recurrence risks

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