Molecular Genetics Phenylketonuria Hydroxylase ( PAH ) Gene Analysis / Guthrie Test - NGS
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
Test Code
MOG170
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