| Specimen requirement | Plasma | Urine |
| Paediatric patient: Paediatric heparin tube Number of vials: 2 Minimum blood volume: 2.6 mL |
Spot urine: Plain urine bottle Volume: 10 mL |
|
| Authorisation code required | No | No |
| 24 Hr available service | No | No |
| Precaution |
Collect one full tube of blood, cap and mix thoroughly.
Avoid bacterial and fecal contamination to the fresh urine sample.
Relevant information (including patient’s information, clinical presentation, biochemical abnormalities, diet, ant treatment) must be provided either by an information sheet for metabolic screening, or data entered into the GCRS system. |
|
| Method |
Urine dipstix test for urinary glucose, ketone and sulfite
Reagent tablet for reducing substances
Thin layer chromatography for sugars
High performance liquid chromatography (HPLC) for urinary / plasma amino acids
Gas chromatography-mass spectrometry (GCMS) for urinary organic acids |
|
| Reference interval |
Normal: glucose, ketone, sulfite, and reducing
substances are negative
See also amino acids quantitation. |
|
| Clinical indication | Screening for metabolic disease, such as galactosemia | |
| Result interpretation |
Results interpreted by medical and scientific staff specialised in the field of inherited metabolic diseases. |
|
| Measurement of uncertainty | See table. | |
| Frequency of measurement | Weekly | |