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). Pryridoxal 5'phosphate (PLP) (a memeber 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 .
10 - 14 days
Soft Order Code
Pyridoxal 5'-phosphate (CSF)
Medical Neurogenetics (MNG) NC05
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4.5 mL CSF
Test sent to MNG Laboratories.