Amino Acid, Plasma | KK Women's and Children's Hospital

Specimen Container

Lithium heparin tube

(To be obtained from DPLM Client Services, after office hour call extension 1352)

Specimen Requirement

Whole Blood
1 mL

Specimen Storage/Transport

Send specimen directly to the laboratory. Specimen should be separated within 1 hour of sampling.

Please send with a separate ice pack.

Orderable as Urgent?

For URGENT analysis, contact the Biochemical Genetics lab on 6394 8728 or the Lead Scientist on 8388 8741 to discuss.

Turn Around Time

5 working days

Reference Value(s)

Plasma Amino Acids Reference Range (µmol/L)

Testing Laboratory Location

KKH

Laboratory

Biochemical Genetics Lab

Contact Number

6394 8728

Day and Time Performed

Mon – Fri: 0900 hrs – 1800 hrs

Orderable on CPOE?

Yes

Downtime Form

Biochemical Genetics Lab

Additional Information

Useful For	Detecting disorders such as phenylketonuria(PKU), tyrosinaemia, maple syrup urine disease(MSUD), cystinuria, non-ketotic hyperglycinaemia and the urea cycle disorders. Monitoring the efficacy of treatment in patients with these disorders, as well as patients on low protein diets for other reasons (eg. those with organic acidaemias).
Clinical Indication	acute life-threatening episode failure to thrive recurrent vomiting neurological deterioration hyperammonaemia lethargy metabolic acidosis testing or following therapy for a specific inborn error of metabolism (PKU, MSUD, tyrosinemia, etc.).
Interpretation	A detailed interpretation requires the overview of results and correlation to available clinical information. Further steps such as additional biochemical and in vitro studies (enzyme & molecular analysis) may be needed to confirm and provide differential diagnosis of the disorders.