This profile should be collected when the patient is hypoglycaemic.
The specimens required for a complete profile (see below)are:
(all tubes PAEDIATRIC, FILLED TO TOP LINE)
1 full fluoride oxalate tube (grey top)
2 full lithium heparin tubes (light green top)
3 full clotted blood tubes (yellow top)
5 mL urine (first specimen post episode)
Immediately send these specimens to Pathology in a COLD pack.
Note: If insufficient specimen volume received, unless instructed otherwise, Group 1 tests will be prioritised, then as many Group 2 tests as possible.
GROUP 1 TESTS: Glucose, lactate, ammonia, amino acids, beta hydroxybutyrate, free fatty acids, insulin, c-peptide, growth hormone and cortisol.
GROUP 2 TESTS: Acylcarnitine profile, 17OHP, urine metabolic screen.