Casandra
Casandra Test Code GE31943Version 1 (DRAFT)
Performing Lab
Lab GeneDxLab Test ID N/A
PAH Gene Sequencing and Del/Dup for PKU
Clinical Use
Order TestUse
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
Not provided.
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.
Test Details
Methodology
NGS (Targeted)
Biomarkers
PAH
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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