Phenylketonuria (PKU) Gene Sequencing
Also known as: PKU Mutation Analysis, PKU Gene Analysis, PKU Gene Sequencing, PAH Gene Sequencing
Use
This test is used to identify disease-causing variants in individuals affected by or carriers of PKU. It can also be used for prenatal diagnosis of PKU in at-risk pregnancies([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/508069/?utm_source=openai))
Special Instructions
Informed consent is required based on applicable state law; pre-test genetic counseling not required; post-test genetic counseling not required([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/508069/?utm_source=openai))
Limitations
Analytical sensitivity and specificity approximately 99%; proficiency testing is performed through a formal PT program via EMQN; laboratory follows ACMG variant classification protocols([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/508069/?utm_source=openai))
Methodology
NGS
Biomarkers
LOINC Codes
- 49014-4
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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