PHENYLKETONURIA (PAH) GENE PANEL BY NGS, EDTA BLOOD

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The Phenylketonuria (PAH) Gene Panel by NGS is a specialized genetic test designed to detect mutations in the PAH gene responsible for phenylketonuria, a metabolic disorder that impairs the breakdown of the amino acid phenylalanine. If untreated, this condition can lead to intellectual disability, developmental delays, and neurological problems. Metropolis Healthcare uses advanced Next-Generation Sequencing technology to provide accurate identification of pathogenic variants using an EDTA blood sample. This test is recommended for newborns with abnormal screening results, individuals with suspected metabolic disorders, or families with a history of PKU. Early detection supports timely dietary management and long-term treatment planning

  • 17 Crores+ Samples Processed
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  • Free Home Collection

Price: Rs. 19,950.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: G0134

Frequently Asked Questions (FAQ's):

What does the PAH Gene Panel for Phenylketonuria include at Metropolis Healthcare?
It includes comprehensive sequencing of the PAH gene to identify mutations that cause classic or variant forms of phenylketonuria.

How does Metropolis Healthcare perform this genetic test?
Metropolis Healthcare uses high-precision NGS platforms with expert bioinformatics analysis to accurately detect disease-causing variants from EDTA blood samples.

Who should consider taking this test at Metropolis Healthcare?
Newborns with positive metabolic screening, individuals with high blood phenylalanine levels, or those with a family history of PKU should consider this test.

What sample is required for the PAH gene test at Metropolis Healthcare?
An EDTA blood sample is needed for DNA extraction and sequencing.

How long does it take to receive results from Metropolis Healthcare?
Reports are typically available within several working days depending on analysis complexity.

Can this test help guide treatment and dietary planning?
Yes, Metropolis Healthcare provides valuable insights that help guide nutritional therapy and long-term disease management.

Does Metropolis Healthcare offer genetic counseling for PKU?
Yes, expert genetic counselors are available to explain results, inheritance risks, and family planning options.

Is fasting needed before sample collection at Metropolis Healthcare?
No fasting is required; blood collection can be done at any convenient time

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