Tetrahydrobiopterin and Neopterin Profile (BH4, N)
Use
CSF Neopterin/Tetrahydrobiopterin (NC03) is useful for diagnosing certain disorders of neurotransmitter metabolism. This testing may help assess Variants of Uncertain Significance (VUS) identified during genetic testing, such as through Next Generation Sequencing or Capillary Sequencing Testing. Tetrahydrobiopterin (BH4) is a cofactor in phenylalanine hydroxylation and biogenic amines biosynthesis. BH4 deficiency may result from mutations affecting biosynthetic or regenerating enzymes, causing hyperphenylalaninemia and neurotransmitter deficiencies of dopamine and serotonin. Altered CSF neopterin levels may indicate BH4 synthesis pathway deficiencies, presenting symptoms such as developmental delay and behavioral disturbances.
Special Instructions
Not provided.
Limitations
This test was developed and its performance characteristics determined by Medical Neurogenetics, LLC. It has not been cleared or approved by the U.S. FDA, meaning its use may be limited to specific laboratory settings. Improper sample labeling can lead to false positive or negative results. The test requires specific specimen types and conditions, as samples not adhering to these requirements may be rejected.
New York Approved
Methodology
Chromosomal / Cytogenetics
Biomarkers
LOINC Codes
- 80168-8 - Pterins Pnl CSF
- 34146-1 - Neopterin CSF-sCnc
- 59247-7 - Biopterin H4 CSF-sCnc
- 80173-8 - Pterins pattern CSF-Imp
Result Turnaround Time
10-18 days
Related Documents
For more information, please review the documents below
Specimen
Cerebrospinal Fluid
Volume
Not provided
Minimum Volume
Not provided
Container
CSF KIT
Collection Instructions
CSF should be collected from the first drop into the numbered tubes. Fill each tube to the marked line with required volumes. If blood contaminated, centrifuge immediately and transfer clear CSF to new tubes before freezing. Store samples at -80 until shipment.
Storage Instructions
Store samples at -80°C. Ship samples frozen on dry ice.
Causes for Rejection
Specimens other than CSF in the special collection kit (T657) may be rejected. Hemolysis, lipemia, and other conditions may also lead to rejection.