Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma
Also known as: P-DEP SP
Use
Primarily used for the diagnosis and monitoring of patients with pyridoxine-dependent epilepsy. Additionally, it can aid in differential diagnosis of associated disorders such as peroxisomal disorders, hyperlysinemia type 1, and sulfite oxidase/molybdenum cofactor deficiencies.
Special Instructions
Clinical information is needed for appropriate interpretation. Submit age, gender, diet (e.g., TPN therapy), drug therapy, and family history on a Biochemical Genetics Patient History Form. For adults, fasting specimens are preferred; for infants and children, draw specimens prior to feeding or 2-3 hours after a meal, preferred.
Limitations
Not provided.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 32334-5
- 48767-8
- 92766-5
Result Turnaround Time
4-12 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.5 mL
Minimum Volume
0.2 mL
Container
Green (sodium or lithium heparin), lavender (EDTA), plain red, or serum separator tube (SST)
Collection Instructions
Separate from cells ASAP or within 2 hours of collection. Transfer to an ARUP standard transport tube and freeze immediately.
Patient Preparation
Adults: Fasting specimen preferred. Infants and Children: Draw specimen prior to feeding or 2-3 hours after a meal preferred.
Storage Instructions
CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.
Causes for Rejection
N/A
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 24 hours |
| Frozen | 1 week at -20 degrees C; 1 year at -70 degrees C |