NeuroSURE® Metabolites: Pyridoxal 5'-phosphate, Cerebrospinal Fluid (CSF)
Use
CSF Pyridoxal 5'-phosphate is useful for diagnosis of disorders leading to low CSF levels of this cofactor. This testing may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (eg. Next Generation Sequencing or Capillary Sequencing testing). Pryridoxal 5' phosphate (PLP) (a member of the vitamin B6 family) is required as a cofactor for more than 100 different enzymes in the body. These may involve the metabolism of various neurotransmitters and amino acids. Inadequate PLP may occur due to genetic, nutritional deficiencies as well as reaction with various drugs. Inherited disorders that affect the CSF PLP level include pyriodx(am)ine phosphate oxidase (PNPO) deficiency, alpha amnioadipic semialdehyde dehydrogenase deficiency, hyperprolinermia type 2 and hypophoshatasia due to alkaline phosphatase deficiency.
Special Instructions
Not provided.
Limitations
The performance characteristics of this test were ascertained by LabCorp. It is important to note that the test has not gone through clearance or approval by the Food and Drug Administration. Furthermore, the standard turnaround time could extend if confirmatory or additional reflex tests are warranted. These factors highlight the limitations in the wider clinical application of the test.
Methodology
Other
Biomarkers
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Cerebrospinal Fluid
Volume
1.0 mL
Minimum Volume
0.5 mL
Container
Sterile screw capped vial
Collection Instructions
Collect entire sample into a single sterile tube.
Storage Instructions
Freeze immediately.
Causes for Rejection
Bloody CSF; received thawed
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unstable (stability provided by manufacturer or literature reference) |
| Refrigerated | Unstable (stability provided by manufacturer or literature reference) |
| Frozen | -20°C = 72 hours; -80°C = Indefinite (stability provided by manufacturer or literature reference) |
Other tests from different labs that may be relevant