NeuroSURE® Metabolites: Pyridoxal 5'-phosphate, Cerebrospinal Fluid (CSF)

CPT: 84207

Expected Turnaround Time

10 - 14 days


Specimen Requirements


Specimen

Cerebrospinal fluid (CSF)


Volume

1.0 mL


Minimum Volume

0.5 mL


Container

Sterile screw capped vial


Collection

Collect entire sample into a single sterile tube.


Storage Instructions

Freeze immediately.


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)

Freeze/thaw cycles

None (stability provided by manufacturer or literature reference)


Causes for Rejection

Bloody CSF; received thawed


Test Details


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.


Limitations

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

High-pressure liquid chromatography (HPLC)


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