Pyridoxal 5- Phosphate Concentration

Test Code

10376

CPT Codes
84207<br /> Limited Access Code

Preferred Specimen

1 mL CSF collected in a sterile screw-cap vial

Minimum Volume

0.5 mL

Instructions

Collect entire sample in a single sterile tube: FREEZE IMMEDIATELY after collection, Sample stability is limited.

Recommended MNG Kits: CSF Collection Tubes (set of 5 tubes per kit)

Transport Temperature

Frozen

Specimen Stability

Room temperature: Not stable
Refrigerated: Not stable
Frozen -20° C: 72 hours
Frozen -80° C: Indefinitely

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Bloody CSF • Received thawed

Methodology
HPLC/Fluorescence

FDA Status
This test was developed and its performance characteristics determined by Medical Neurogenetics, LCC. It has not been cleared or approved by the U.S. FDA.

Setup Schedule

Set up: Varies; Report available: 10-14 days

Reference Range

Age (years)	nmol/L
0-0.25	30-80
0.26-1	23-65
1.01-4	15-51
4.01-Adult	10-37

Clinical Significance

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 (e.g. Next Generation Sequencing or Capillary Sequencing Testing). CLINICAL Pryridoxal 5'phosphate (PLP) (a member of the vitamin B6 family) is required as a cofactor for over 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 pyridox(am)ine phosphate oxidase (PNPO) deficiency, alpha aminoadipic semialdehyde dehydrogenase deficiency, hyperprolinermia type 2 and hypophoshatasia due to alkaline phosphatase deficiency.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.