Test catalog
PAH gene copy number analysis by MLPA
Assessment of the copy number of the PAH gene by MLPA to detect deletions and duplications.
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Turnaround time and when it starts
- 30 calendar days, after order confirmation
- Medical order
- Required. View requirements and limitations.
Test information
Technical details for PAH gene copy number analysis by MLPA
Method, scope, requirements and limitations
Assessment of the copy number of the PAH gene by MLPA to detect deletions and duplications.
- Applications
- Rare and hereditary diseases
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Estimated turnaround time
- 30 calendar days, after order confirmation
- Methodology
- MLPA (Multiplex Ligation-Dependent Probe Amplification) study to assess gene copy number.
- Analytical scope
- Copy number of the PAH gene, with detection of deletions and duplications in the regions covered by the assay probes.
- Genes analyzed
-
1 genes analyzed.
See full content
PAH
- Medical order
- Required
Requirements
A medical order and sufficient clinical information to guide the analysis.
Limitations
This test does not detect point variants (SNVs) or small deletions/duplications (indels). Variants outside the validated scope may not be detected.
Additional information
The report must be interpreted by a physician within the clinical context of the patient. Genetic counseling is recommended.
