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Amino Acids, CSF

Alternate test name
Lab area
Clinical Biochemistry - Metabolic Diseases
Method and equipment
Quantitation of amino acids following derivatization, measurement by UPLC absorbance.
Expected turn-around time
STAT/Urgent: 8 Hours Routine: 7 days
Specimen type

Clear CSF

Specimen requirements

150 µL of clear CSF

Storage and transportation

Freeze (-20 C) sample ASAP if sample is clear and free of red cells. If sample is contaminated with red cells, spin down and transfer the clear supernatant to a clean tube or vial before freezing. Ship sample frozen on dry ice

Special requirements

Sample must be frozen after collection. 

For nonketotic hyperglycinemia (NKH), plasma/serum sample should accompany CSF sample and both tests requested on form. 

Absence of plasma/serum measurement decreases the predictive value of CSF glycine for NKH.

Shipping information
The Hospital for Sick Children
Rapid Response Laboratory
555 University Avenue, Room 3642
Toronto, ON
M5G 1X8
Phone: 416-813-7200
Toll Free: 1-855-381-3212
Hours: 7 days/week, 24 hours/day
Disease condition

Cerebral amino acidopathies, particularly defects affecting the glycine cleavage enzyme (nonketotic hyperglycinemia) and serine deficiency.

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