Synonyms
Pterins; Dihydropteridine Reductase
Specimen Type
Blood Spots and Urine
Performing Lab
CDPH Genetic Disease Lab forwards to CHLA
Epic ID
LAB07708
Lab Test Days
Monday-Friday
Collection Information
Specimen Required
4 Circles on Biopterin Blood Spot Collection Card ***and*** 10 mL Urine in Amber Urine Bottle
Container Type
See Below
Collection Instructions
Complete Biopterin Specimen Collection Form. Blood Collection: Fill a minimum of 4 circles on the supplied Biopterin Blood Spot Collection Card. Allow blood spots to air dry thoroughly for 3 hours at room temp. Keep away from direct sunlight and heat. Peel one barcode label off of the Biopterin Blood Spot Collection Card and apply to Biopterin Specimen Collection Form. Place the card in a plastic bag and freeze. Urine Collection: Collect 10 mL of urine. The urine collection bag and bottle must be protected from light. There should be no direct sunlight in the room and no fluorescent lights on. The collection bag should be covered with a blanket during the collection to minimize light. Place urine in a brown plastic collection/shipping bottle with as little exposure to light as possible. Peel the remaining barcode label off the Biopterin Blood Spot Collection Card and apply to the brown bottle of urine. Wrap the bottle in aluminum and freeze. IF Biopterin Blood Spot Collection Card is NOT provided or available, as an alternative collection form: use the Newborn Screen Card (TRF). Complete attached form on the Newborn Screen Card (Under REASON for Test, mark Other Repeat and specify for Biopterin Testing) and complete the Biopterin Specimen Collection Form as well to submit with specimen to the Genetic Disease Screening Program.
Processing Information - Lab Use Only
Transport Temperature
Frozen-Only
Test Volume Required
4 Circles on Biopterin Blood Spot Collection Card ***and*** 10 mL Urine in Amber Urine Bottle
Minimum Test Volume
4 Circles on Biopterin Blood Spot Collection Card ***and*** 10 mL Urine in Amber Urine Bottle
Processing Instructions
Send completed Biopterin Specimen Collection Form with urine and Blood Spot Collection Card frozen Monday-Thursday only, no weekends or holidays to: CDPH Genetic Disease Laboratory Branch 850 Marina Bay Parkway, C222 Richmond, CA 94804. If Biopterin Blood Spot Collection Card is not provided or available and as an alternative collection form: use the Newborn Screen Card (TRF). Complete attached form on the Newborn Screen Card (Under Reason for Test, mark Other Repeat and specify for Biopterin Testing) and complete the Biopterin Collection Form as well to submit with specimen frozen to the Genetic Disease Screening Program. CDPH Genetic Screening Program forwards samples to CHLA Biochemical Genetic for testing. For questions on specimen collection and shipping requirements, please contact CHLA Biochemical Genetics at (323) 361-2423 or (877) 543-9522.
Included Tests
Biopterin Metabolites and Dihydropteridine Reductase.
Comments
Only by special request for NBS Follow-Up. For Biopterin Blood Spot Collection Card and Form, contact Jennifer Widmer (Metabolic Coordinator) at x224642.
Revised
8/30/23
Initials
SA