Clinical Neurochemistry / Amino Acid Disorders Laboratory
SPECIMEN REQUIREMENTS:
Amino Acid Analysis
Blood: 3 - 5 ml fasting blood in an EDTA tube. Centrifuge, remove
plasma and place in a clean tube. Send frozen.
Urine: 5 - 10 ml random urine or 10 ml aliquot of a 24 hr timed urine
in a plain tube. Send frozen.
Amniotic Fluid: 2 - 5 ml in a plain tube. Send frozen.
CSF: 0.5 - 1 ml in a plain tube. Send frozen.
Organic Acid Analysis; Orotic acid, N-acetylaspartate; Succinylpurine
screen, Thiosulfate
Urine: 5 - 10 ml random urine or 10 ml aliquot of a 24 hr timed urine
in a plain tube. Send frozen.
DNA Testing – MCAD, MTHFR, SUOX
Blood: minimum 5 ml blood in an EDTA tube. Do not centrifuge. Send
whole blood at room temperature. Protect from freezing.
Arginase activity; Fumarase activity, Fumarase mutation analysis
Done by pre-arrangement only. Please telephone for specimen information.
|
