Urea Cycle Disorders Panel
Use
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
The test involves NGS with CNV analysis and is available on the Exome or Genome platform. Various specimen types are accepted depending on the platform chosen.
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided