Casandra
Casandra Test Code PG23805Version 1 (DRAFT)
Performing Lab
Lab Prevention GeneticsLab Test ID 10273
Urea Cycle Disorders Panel
Clinical Use
Order TestUse
This test is designed for individuals with relevant clinical features indicative of urea cycle disorders or those with plasma ammonia levels ≥150 μmol/L along with a normal anion gap and plasma glucose concentration. It helps in confirming a clinical or suspected diagnosis of urea cycle disorders by analyzing nine specific genes relevant to these disorders.
Special Instructions
Not provided.
Limitations
The test has not been cleared or approved by the US Food and Drug Administration. It should be noted that while the NGS platform covers a range of genetic variations, not all may be detectable depending on the nature and context of the genetic anomaly.
Test Details
New York Approved
Methodology
NGS (Targeted)
Biomarkers
No genes
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided