PKU Cofactor Screen
Label Mnemonic: PKUCOFACT
Epic code: LAB3864
Downtime form: Doctor/Provider Orders - Pathology Core and Specialty Care Nursery
Commercial Mailout Laboratory
6240-8 RCP
356-8593
Specimen(s):
Blood Spots and Urine
Collection Medium:
and
Filter paper (Lot #W-051) Urine (Random)-BD Vacutainer®, no additive yellow top
Minimum:
Collect 2 blood spots and 1 mL random urine.
Rejection Criteria:
Insufficient volume; specimen not protected from light; specimen not frozen.
Delivery Instructions:
Deliver to laboratory immediately after collection. Critical frozen. Place in Amber bag to protect from light.
Turn Around Time:
10 working days upon receipt at reference laboratory
Reference Range:
1.133 + 0.345 μmol/minute/disc for blood
Neopterin/biopterin ratio: 0.3-3.0 for urine
Comments:
Dihydropteridine reductase deficiency is a relative or absolute deficiency of this enzyme causing a disorder of phenylalanine metabolism. The resulting disease resembles phenylketonuria, but does not respond to restriction of dietary phenylalanine. The clinical picture includes central nervous system deterioration with retardation, spasms, and chorea appearing early in life. Death occurs within several years, despite early detection.
Methodology:
Enzyme Assay for blood
High Performance Liquid Chromatography (HPLC) for urine
CPT Code:
82542 & 82657
 
See Additional Information:
Specimens Requiring Immediate Delivery