Molecular Genetics Phenylketonuria Hydroxylase ( PAH ) Gene Analysis / Guthrie Test - NGS
Test Code
MOG170
Also Known As
#1) Phenylketonuria Genetic Test #2) PAH Gene Mutation Analysis #3) PKU Molecular Diagnostic Test #4) Phenylalanine Hydroxylase Gene Sequencing #5) PKU DNA Mutation Test #6) Phenylketonuria NGS Test #7) PAH Deficiency Gene Test #8) Phenylalanine Metabolism Disorder Test #9) Guthrie Bacterial Inhibition Assay #10) PKU Confirmatory Genetic Analysis #11) Phenylketonuria Carrier Detection #12) NGS for Phenylketonuria Gene Study #13) PAH Variant Detection Test #14) Phenylalanine Hydroxylase Deficiency Detection #15) Genetic Screening for Phenylketonuria
Test Parameters Included
#1) PAH Gene Full Sequencing #1.1) Exon and Exon-Intron Boundary Regions #1.2) Detection of Single Nucleotide Variants (SNVs) #1.3) Detection of Small... Read more
Department
MOLECULAR GENETICS
Methodology
NGS Next Generation Sequencing (NGS)** <br/>#1) Extraction of genomic DNA from whole blood (EDTA). <br/>#2) Library preparation with targeted enrichme... Read more
Sample Required
WB EDTA
Preparation
#1) No fasting or special dietary preparation is required. #2) Inform your physician about any previous genetic or metabolic test results. #3) Provide... Read more
Schedule Report
25 Days
Emergency Report
Yes
Frequently Asked Questions
1) What is phenylketonuria (PKU)? PKU is a genetic disorder in which the body cannot break down the amino acid phenylalanine, leading to its accumulat... Read more
Test Description
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.