Genetic Test Details | Ontario Health

Phenylketonuria: PAH deficiency

Test Information

Title: Phenylketonuria: PAH deficiency
Lab: Newborn Screening Ontario
Category: Metabolic
Test Name (CMS Title): Amino Acid Disorders
Gene/Platform/Region List: PAH
Test type: Single Gene
Samples Accepted: Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications: Diagnosis, Carrier Cascade Testing
Test Methodology: Sequencing
Methodology Notes: Sequencing + MLPA
Disease/Condition: Phenylalanine hydroxylase (PAH) deficiency

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