Biopterins / Dihydrobiopterin reductase (DHPR)
Biopterin is needed as cofactor for phenylalanine, tryptophan & tyrosine hydroxylases, and NO synthase. A deficiency in synthesis or recycling of biopterin leads to problems in the metabolic pathways of these substances. Indication for testing: patients with hyperphenylalaninaemia. Phenylalanine at the time of sampling must be > 200 umol/L in order to interpret results.
| Tube | Dried Blood Spot |
|---|---|
| ID | Tests&Tubes0160 |
| Additional Information | Required sample type is: Dried blood spot (Guthrie) card. NB Blood cannot be spotted from an anti-coagulated tube. |
| Turn Around | Turnaround time stated by Birmingham Children's Hospital: 15 working days. |
| Send to | Blood Sciences LGI (Test referred to: Birmingham Children's Hospital.) |
| Contact | For further details please contact Leeds Pathology customer services: leedsth-tr.pathologycustomerservice@nhs.net. |
| Collection Con | Collection Conditions: Minimum Volume: NA. Dried blood spot (BSD) - NOT from anti-coagulated blood. Ideally collect when phenylalanine is increased. 2 x 10 mm spots for DHPR. 6 x 10 mm spots for biopterins (+ 1 extra if phenylalanine result is not provided). Instructions to lab: store frozen prior to dispatch |
| Ref. Range Notes | Interpretation will be provided on report. |
| Telepath | BOPT1R & SA1R |
