CMH Lab Section
Quantitation for:Serum/Plasma, Urine or CSF.
Quantitation of amino acids to detect inborn errors of metabolism such as
Tyrosemia, PKU, MSUD urea cycle defects, Fanconi Syndrome, Lowe Syndrome, Cystinuria, Hartnup disease, non-ketotic hyperglycemia, and many others.
Blood: 2 mL in light green (preferred) or red top with or without gel
Urine: 3 mL random urine
CSF: 1 mL, non-traumatic tap
Testing is completed daily Monday-Friday. Reports with interpretations are released Fridays.
Turn Around Time
3-10 days. Specimens must be received in the lab by Thursday afternoon to be reported out on Friday.
Orders for CSF should be accompanied by a blood specimen to facilitate interpretation.
For blood collection:
Except for emergent or critically ill children, the patient must have been fasting:
ages 0-6M = 3 hours
ages 7-24M = 6 hours
ages >24M = 8-12 hours
Ion Exchange Chromatography
See interpretative report