Pyridoxine-Dependent Epilepsy Panel, Urine
Also known as: P-DEP U
Use
This test is primarily used for the diagnosis and monitoring of patients with pyridoxine-dependent epilepsy. It serves as a useful tool in differentiating this condition from peroxisomal disorders, hyperlysinemia type 1, and sulfite oxidase/molybdenum cofactor deficiencies. The results of the panel provide critical insights into the metabolic status related to these disorders, aiding clinicians in patient care.
Special Instructions
Clinical information is essential for appropriate interpretation of results. Required information includes patient age, gender, diet (e.g., TPN therapy), drug therapy, and family history. A Biochemical Genetics Patient History Form is available at the ARUP website or by contacting ARUP Client Services. The collection should be done using random urine, with the first morning urine being preferred. It must be frozen immediately and transported critically frozen. If collected refrigerated, it should be frozen within 24 hours.
Limitations
This test is developed and performed by ARUP Laboratories and is classified as a Laboratory Developed Test (LDT); it is not cleared or approved by the US FDA. Only the CLIA certified laboratory is involved in performing the assay, intended solely for clinical purposes. It is important to note that ambient conditions are unacceptable for specimen stability, which requires freezing at specified temperatures for accurate diagnostics. Any deviation from specified storage or collection guidelines might lead to unreliable results.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 2161-8
- 32335-2
- 48767-8
Result Turnaround Time
4-12 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
1 mL
Minimum Volume
0.3 mL
Container
ARUP standard transport tube
Collection Instructions
Random urine. First morning urine is preferred. Transfer 1 mL urine to an ARUP standard transport tube and freeze immediately.
Storage Instructions
CRITICAL FROZEN (preferred). Refrigerated specimens are acceptable if frozen within 24 hours.
Causes for Rejection
N/A
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 24 hours |
| Frozen | -20°C: 1 week; -70°C: 1 year |