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.

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 4 ml blood in an EDTA tube. Do not centrifuge. Send whole blood at room temperature. Protect from freezing. Must be received within 4 days of blood drawing.

Enzyme assays: Arginase activity; Fumarase activity
Done by pre-arrangement only. Please telephone for specimen information.

Send feedback to rmandell@partners.org
Last updated Dec-09