Genetic Test Details | Ontario Health

Phenylketonuria: Biopterin deficiencies

Test Information

Title: Phenylketonuria: Biopterin deficiencies
Lab: Newborn Screening Ontario
Category: Metabolic
Test Name (CMS Title): Amino Acid Disorders
Gene/Platform/Region List: DNAJC12, GCH1, PCBD1, PTS, QDPR, SPR
Test type
Samples Accepted: Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications: Diagnosis, Carrier Cascade Testing
Test Methodology: Sequencing
Disease/Condition: Biopterin deficiencies

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