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|
|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: firstname.lastname@example.org.|
|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|