Turnaround times
The quoted turnaround time is from sample receipt in the laboratory, to results authorisation in the Laboratory Information Management system. The times do not include transport of specimen to the laboratory or the administrative process to print and post/email reports. Service users must allow for transport and reporting time when ordering tests.
Clinical background:
Tetrahydrobiopterin (BH4) is a cofactor for phenylalanine hydroxylase. Dihydropteridine reductase (DHPR) is required for BH4 synthesis.
Deficiency of either result in hyperphenylalaninaemia (“atypical” PKU).All patients identified with increased phenylalanine on newborn screening require follow-up BH4 and DHPR analysis.
Specimen container paediatric:
Blood spots (5) Guthrie card
Specimen container adult:
Blood spots (5) Guthrie card
Minimum volume paediatric:
5 spots
Minimum volume adult:
5 spots
Special requirements:
Store sample at 4°C
Transport requirements:
Post – contact the laboratory first.
Interpretation:
Interpretation will be provided as part of the report.