PAH Gene Sequencing and Del/Dup for PKU
Use
Detects sequence variants and deletion/duplication (copy‑number) variants in the PAH gene, which are causative of phenylketonuria (PKU), enabling accurate diagnosis and informing management strategies.
Special Instructions
You must order appropriate specimen collection (blood or alternative) using GeneDx collection kit and complete requisition with clinical information. Billing via patient insurance, institutional client, or self‑pay depending on provider selection.
Limitations
Performance may be impacted by regions with low coverage or limitations in detection of certain structural variants beyond del/dup. Negative results do not rule out deep intronic or regulatory variants, mosaicism, or untested gene‑related mechanisms.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided