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Tetrahydrobiopterin and Neopterin Profile
Test Code10373
CPT Codes
82542<br>Limited Access Code
Preferred Specimen
1 mL CSF collected in a sterile screw-cap vial
Minimum Volume
0.5 mL
Instructions
Must be collected in tube 3 from supplied kit. Neopterin may be ordered if MNG collection kit not available.
Storage Instructions: Freeze as soon as possible after collection
Transport Container
MNG supplied screw capped vial #3
Transport Temperature
Frozen
Specimen Stability
Room temperature: Not stable
Refrigerated: 24 hours
Frozen: 72 hours
Refrigerated: 24 hours
Frozen: 72 hours
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Bloody CSF •Received thawed • Improper collection tube
Methodology
HPLC/Electrochemistry/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
See Laboratory Report
Clinical Significance
CSF Neopterin/Tetrahydrobiopterin (NC03) is useful for diagnosis of certain disorders of neurotransmitter metabolism. 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 Tetrahydrobiopterin (BH4) serves as a cofactor for the hydroxylation of phenylalanine and in the biosynthesis of biogenic amines. Deficiency of BH4 may occur as a result of mutations causing a reduction in one of the three biosynthetic enzymes, guanosine triphosphate cyclohydrolase, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, or the two regenerating enzymes, pterin-4-carbinolamine dehydratase, and dihydropteridine reductase. Defects in BH4 metabolism can result in hyperphenylalaninemia and deficiency of the neurotransmitters dopamine and serotonin. Changes in CSF neopterin may also occur in deficiency of the BH4 synthesis pathway. Disorders of BH4 metabolism are characterized by a wide range of symptoms that may include developmental delay, mental disability, behavioral disturbances, dystonia, Parkinsonian symptoms, gait disturbances, speech delay, psychomotor retardation and ptosis.
