NeuroSURE® Metabolites: Neopterin/Tetrahydrobiopterin (CSF)

CPT: 82542

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

Sample must be collected in tube no. 3 from supplied kit (PeopleSoft No. 125218).


Storage Instructions

Freeze as soon as possible after collection at -80°C.


Stability Requirements

Temperature

Period

Room temperature

Unstable (stability provided by manufacturer or literature reference)

Refrigerated

24 hours (stability provided by manufacturer or literature reference)

Frozen

-20°C = 72 hours; -80°C = Indefinitely (stability provided by manufacturer or literature reference)


Causes for Rejection

Bloody CSF; received thawed


Test Details


Use

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). 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, intellectual disability, behavioral disturbances, dystonia, Parkinsonian symptoms, gait disturbances, speech delay, psychomotor impairment and ptosis.


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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