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Test Code Phytanic A Phytanic Acid

Clinical System Name

Phytanic Acid

Synonyms

Refsum

Description

Quantitation of phytanic acid by GC/MS

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

 

 

Reference Range

  mcg/mL
Normal < 3.0

 

Methodology

Method: GC/MS

Analytical Volume: 0.2 mL

Limitations:

 

Additional Information: Included in VLCFA panel.

CPT Codes

82542

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.