Test

Molecular Genetics Phenylketonuria Hydroxylase ( PAH ) Gene Analysis / Guthrie Test - NGS

₹52,500 ₹35,999
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Also Known As

#1) Phenylketonuria Genetic Test #2) PAH Gene Mutation Analysis #3) PKU Molecular Diagnostic Test #4) Phenylalanine Hydroxylase Gene Sequencing #5) PK... Read more

Test Parameters Included

PAH Gene Full SequencingExon and Exon-Intron Boundary RegionsDetection of Single Nucleotide Variants (SNVs)Detection of Small Insertions and Deletions... Read more

Department

MOLECULAR GENETICS

Methodology

NGS Next Generation Sequencing (NGS)** #1) Extraction of genomic DNA from whole blood (EDTA). #2) Library preparation with targeted enrichment of PAH ... Read more

Sample Required

WB EDTA

Preparation

No fasting or special dietary preparation is required.Inform your physician about any previous genetic or metabolic test results.Provide a detailed fa... Read more

Schedule Report

25 Days

Emergency Report

Yes

Frequently Asked Questions

What is phenylketonuria (PKU)?PKU is a genetic disorder in which the body cannot break down the amino acid phenylalanine, leading to its accumulation ... Read more

Test Description

Molecular Genetics Phenylketonuria Hydroxylase (PAH) Gene Analysis / Guthrie Test - NGS Examination Molecular Genetics Phenylketonuria (PAH) gene ana... Read more

Test Code

MOG170

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