PKU Cofactor Variant Screen

Dihydropteridine Reductase, Filter Paper, Blood: Enzyme assay

Pterins Qualitative, Urine: High performance liquid chromatography (HPLC)

Dihydropteridine Reductase, Filter Paper, Blood: 1.133 +/- 0.345 umol/minute/disc

Pterins Qualitative, UrineNeopterin/biopterin ratio: 0.3-3.0

This test requires both blood and urine. Collection details below. Note: PKU collection cards may be obtained from Materials Management (specify stock item: #61118).

Blood Spot Collection:

• Fill 2-4 circles of a PKU card with blood. Circles must be filled completely.
• Complete the patient demographic information (Name, DOB, MRN, Collection Date and Time) on the card.
• Allow sample to dry in the dark.
• Place card in a paper envelope and send to the lab. Do not place card in a plastic bag.

Urine Collection: Collect 2mL random urine in a sterile collection container and protect from light. Send to the lab immediately.

Blood: Hold and transport at room temperature. Place card in a paper envelope to protect from light. Do not place card in plastic.

Urine: Transfer 2 mL urine to an amber (light-protected) plastic vial and freeze at -20°C.

Login: SEND1

• RSNDT1: University of Illinois Biochemical Genetics Laboratory
• RSTYP1: BLDSP-URN
• RTSRQ1: ;PKU Cofactor Variant Screen

Sendouts:

• Mark two tests on the UofI requisition:
  1. Dihydropteridine Reductase (DHPR) (filter paper blood)
  2. Pterin Qual (urine)
• Include a copy of the requisition with each sample.
• Ship samples Priority Overnight, Monday - Thursday only (Saturday delivery not accepted).
• Ship blood spot card at ambient temperature.
• Ship urine frozen.