Test Code LAB3378 Phytanic Acid
Clinical System Name
Phytanic Acid
Synonyms
Refsum
Phytanic A
Sample Requirements
Specimen: Whole Blood
Container(s): Lavender/EDTA
Preferred Vol: 2.0 mL
Minimum Vol: 1.0 mL (0.5 mL for infants)
Note: Fasting sample preferred. Serum and heparnized plasma are also acceptable.
Non-fasting, hemolyzed samples, or samples from patients on a ketogenic diet can cause false elevations in VLCFA and phytanic acid. Ketogenic diets high in milk fat rather than vegetable fat cause higher phytanic acid levels.
Processing Instructions
Reject due to:
Spin:Y
Aliquot:Y
Temp:-20 C
Storage location: -20 C BCG Box
Off-site collection: Spin and freeze aliquoted plasma. Ship frozen.
Stability
Temperature | Time |
---|---|
Room temp | ≤ 2 hr |
Refrigerated | 2 weeks |
Frozen (Preferred) | 3 months |
Availability
STAT | Performed | TAT |
---|---|---|
N | Weekly | 1 week |
Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.
Performing Laboratory
Seattle Children's Laboratory
Department
Department: Biochemical Genetics
Phone Number: 206-987-2216
CPT Codes
82542
Methodology
Method: GC/MS
Analytical Volume: 0.2 mL
Limitations:
Additional Information: Included in VLCFA panel.
Reference Range
mcg/mL | |
Normal | < 3.0 |
Description
Quantitation of phytanic acid by GC/MS
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, diet (e.g. TPN therapy), drug therapy and family history)
Clinical Utility
Used for diagnosis and monitoring of peroximal disorders.