Genetic Test Details

Phenylketonuria: Biopterin deficiencies

Test Information

Title
Phenylketonuria: Biopterin deficiencies
Category
Metabolic
Sub Category
Amino Acid Disorders
Gene/Platform/Region List
DNAJC12, GCH1, PCBD1, PTS, QDPR, SPR
Test type
Gene Panel
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Biopterin deficiencies

Last Updated: January 06, 2026