Genetic Test Details | Ontario Health

Phenylketonuria: PAH deficiency

Test Information

Title: Phenylketonuria: PAH deficiency
Lab: Newborn Screening Ontario
Category: Metabolic
Sub Category: 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: CNV , Sequencing
Methodology Notes: Sequencing + MLPA
Disease/Condition: Phenylalanine hydroxylase (PAH) deficiency

The information on this website is intended for informational purposes only and is not a substitute for medical advice. Always consult your health care provider if you have questions or concerns. The use of the information on this website does not create a physician-patient relationship between Ontario Health and you.
Ontario Health is committed to ensuring accessible services and communications to individuals with disabilities. To receive any information on this website in an alternate format, please contact Ontario Health’s Communications Department at: 1-877-280-8538, TTY 1-800-855-0511, or by email at info@ontariohealth.ca.