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Performing Laboratory
St. Louis Children's Hospital Sendout to Kennedy Krieger Institute Genetics Laboratory
Specimen Requirements
Specimen Type: Blood
Patient Preparation: None
Container/Tube
Preferred: Lavender-top (EDTA) Vacutainer®.
Acceptable:
Collection Volume: 3.0 mL (minimum 1.5 mL)
Special Instructions:
Immediately invert tube gently 8-10 times after collection to ensure proper mixing of blood and anticoagulant (this will avoid specimen clotting).
Send a completed "Kennedy Krieger Institute Genetics Laboratory - Proxisomal Disease" test requisition with specimen. Send to lab promptly.
Sample Rejection
Clotted specimens.
Specimens collected anytime Friday-Sunday
Mislabeled or unlabeled specimens.
Logistics
Test Availability: Collect Monday-Thursday only to be received in lab by 1600 day of collection.
Cut-off time: None
Days set up by performing lab: Wednesday
Turnaround Time: 7-10 days
Reference Values
Reference Interval: Interpretive report will be provided
Critical Value: None established
Methodology
Plasmalogens in the form of dimethylacetals (DMAs) are identified by gas chromatography and the DMA/fatty acid ratios (C16:0DMA/C16:0 and C18:0DMA/C18:0) are compared to reference lab's normal and disease control values.
Limitations
NA
Additional Information
FOR SLCH CORE LABORATORY USE ONLY
Lab Processing Instructions: DO NOT SPIN.
Transport Temperature: Ambient
Analyte Stability:
Ambient: NA
Refrigerated: NA
Frozen: NA
Note:
- Specimens should be collected and shipped Mon-Thursday only by overnight express.
- Send the completed "Kennedy Krieger Institute Genetics Laboratory - Proxisomal Disease" test requisition with specimen.
- DO NOT transfer blood to other containers
Test Classification and CPT Code
Misc Ref SLC
82542
LOINC
NA
Last Reviewed
08/2025