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
Not provided.
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
PAH
Gene
LOINC Codes
- 49014-4 - PAH gene Mut Anl Bld/T
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
Other tests from different labs that may be relevant