TYROSINEMIA GENE PANEL BY NGS, EDTA BLOOD

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Tyrosinemia Gene Panel by NGS is a comprehensive molecular test that analyzes genes associated with various types of Tyrosinemia, a metabolic disorder caused by defects in tyrosine breakdown. This test identifies pathogenic variants affecting liver, kidney, and neurological function due to abnormal amino acid metabolism. It assists in confirming diagnosis, determining disease type, guiding treatment decisions, and supporting early intervention. The test is especially useful in infants, children, and individuals with unexplained liver failure, growth issues, or elevated tyrosine levels

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Price: Rs. 21,000.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: G0154

Frequently Asked Questions (FAQ's):

What is the purpose of the Tyrosinemia Gene Panel?
This test is used to detect genetic mutations responsible for Tyrosinemia, helping to confirm diagnosis and classify the specific type (Type I, II, or III).

Who should undergo this test?
It is recommended for newborns with abnormal metabolic screen results, children with liver dysfunction, or individuals with symptoms like developmental delay, poor growth, or kidney issues.

Which sample is required for the test?
EDTA blood sample is required for performing Next Generation Sequencing (NGS).

How long does it take to receive the results?
The reporting time typically varies depending on lab processing, usually between 2–4 weeks.

Can this test help in treatment planning?

Yes, identifying the specific gene mutation guides appropriate therapy, dietary management, and prognosis monitoring 

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