Test Overview
Test Methodology

Spectrophotometry

Test Usage

Diagnose dihydropteridine reductase deficiency

Reference Range *

3.0 - 8.6 nmol/min/disc

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Details
Days Set Up
Monday - Friday
Analytic Time

7 days

Soft Order Code
LADHR
Synonyms
    Reference Laboratory
    Children's Hospital Los Angeles
    Specimen Requirements
    Collection Instructions

    Blood spot card, provided by clinic to patient family for draw; alternatively, a green top (sodium heparin) tube may be used. Send to Specimen Processing room temp

    Normal Volume

    5 spots on card or 2 mL whole blood

    Minimum Volume

    3 spots on card or 1 mL whole blood

    Storage Temperature
    Ambient or refrigerated
    Additional Information

    Test performed by Children's Hospital Los Angeles, Biochemical Genetics/Special Chemistry Lab

    Billing
    CPT Code
    82657
    NY State Approved
    No