Phenylketonuria (PKU) Gene Sequencing

Casandra

Casandra Test Code QD55217Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID 16152CPT Code 81406

Phenylketonuria (PKU) Gene Sequencing

Also known as: PKU Mutation Analysis, PKU Gene Analysis, PKU Gene Sequencing, PAH Gene Sequencing

Clinical Use

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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))

Test Details

Methodology

NGS

Biomarkers

PAH

Gene

SNV/Indel • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

49014-4

Result Turnaround Time

Not provided.

Specimen

Whole Blood

Volume

Not provided

Minimum Volume

Not provided

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