Find Locations
For hours, walk-ins and appointments.Expected Turnaround Time
10 - 14 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Specimen Requirements
Specimen
Cerebrospinal fluid (CSF), frozen
Volume
0.5 mL
Minimum Volume
0.1 mL
Container
Sterile (CSF) container
Collection
CSF should be collected into special collections tubes that are submitted to the physician. MNG already provides these tubes and the package contains specific collection instructions.
Storage Instructions
Freeze as soon as possible after collection.
Stability Requirements
• Room temperature: Unstable (stability provided by manufacturer or literature reference)
• Refrigerated: Unstable (stability provided by manufacturer or literature reference)
• Frozen: -20 C° = 72 hours; -80 C° = Indefinite (stability provided by manufacturer or literature reference)
• Freeze/thaw cycles: Should not undergo any freeze/thaw cycles
Causes for Rejection
Heavily blood-contaminated sample; sample received thawed
Test Details
Use
To establish diagnosis of sepiapterin reductase deficiency to allow focused treatment
Limitations
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Methodology
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
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