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Institute of Metabolic Disease at Baylor Research Institute
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Tetrahydrobiopterin (BH4) & Neopterin (N) profile
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, GTP cyclohydrolase (GTPCH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), sepiapterin reductase (SR), or the two regenerating enzymes, pterin-4?-carbinolamine dehydratase (PCD), and dihydropteridine reductase (DHPR). Defects in BH4 metabolism can result in hyperphenylalaninemia and deficiency of the neurotransmitters dopamine and serotonin.
Download Protocol Sheet and Test Requisition
Department: Neuropharmacology
Methodology: HPLC with electrochemical and fluorescence detection
Sample:
Cerebrospinal Fluid – 3.5 ml collected in special collection tubes (call laboratory to obtain supplies). Each sample collection set consists of 5 microcentrifuge tubes in a cardboard holder. Tube #3 contains antioxidants necessary to protect the sample integrity. One set of tubes is required per patient.
Handling:
• CSF should be collected in the manner indicated on the Collection Protocol Sheet enclosed in the special collection tube package. Contact the laboratory for additional copies of the Collection Protocol Sheet.
• If the samples are not blood contaminated, place the tubes on ice (or dry ice if available) at the bedside. Transfer the samples to a -80°C freezer ASAP.
• If the sample is blood contaminated, the tubes should immediately be centrifuged (prior to freezing) and the clear CSF transferred to new similarly labeled tubes then frozen and stored at -80°C ASAP.
• Store samples at -80°C until sample transport.
Shipping:
Ship sample Monday through Thursday only.
Ship sample overnight with 3-4 lbs of dry ice using a guaranteed overnight courier.
Cost: $125.00
CPT code: 82492
Turnaround Time: 1 week from receipt of sample.
Related tests: Monoamine Neurotransmitter metabolites
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