Paediatric investigation profiles

The following test profiles have been set up after consultation with clinicians. Click the links for details of tests included and samples required. If you want to add a new profile, or need any changes to be made to existing profiles, please contact us.

Metabolic profile for investigation of a suspected metabolic disorder

Point-of-care tests (on ward): blood glucose, blood gases, urine analysis.

If NOT hypoglycaemic or ketotic, collect samples as listed below for metabolic profile.

If blood glucose is less than 2.6 mmol/L on POCT meter, collect samples for hypoglycaemia profile.

If blood pH is less than 7.3 and ketones in urine on POCT meter, collect samples for normoglycaemic ketoacidosis profile.

First line tests (in parallel with sepsis screening) Prothrombin time U&E, bicarbonate, calcium, LFT Ammonia FBC Glucose, lactate   All first line tests carried out in-house.

Samples required Send samples for blood culture to Microbiology separately. Use adult, paediatric 2.0 mL tubes or neonate 1.3 mL tubes as appropriate. 1x citrate (blue top) 1x clotted blood (gold top) (or 1x lithium heparin (green top) for neonates) 2x EDTA (purple top) 1x fluoride oxalate (grey top)   Transport samples to lab immediately. EDTA for ammonia must be on ice.

Hypoglycaemia profile

Request if blood glucose is less than 2.6 mmol/L on POCT meter.

First line tests (in parallel with sepsis screening) Prothrombin time U&E, bicarbonate, calcium, LFT Ammonia FBC Glucose, lactate   Bloods during hypoglycaemic episode Cortisol Growth hormone 3-hydroxybutyrate Acyl carnitines R (please request blood spot acylcarnitines for first line investigations)  Amino acids R Free fatty acids R Insulin and C-peptide R     Collect first-passed urine Urine organic acids R   Additional/ follow up tests Toxicology (if clinical suspicions - contact lab) Urine salicylate R Urine sulphonylureas R Urine ethanol IGF-1 IGF-BP3 R ACTH R   First line tests carried out in-house. Tests marked R are referred to external laboratories.

Samples required Send samples for blood culture to Microbiology separately. Blood Older children (adult 2 - 5 mL tubes) 1x citrate (blue top) 1x clotted blood (gold top) 2x lithium heparin (green top) 2x EDTA (purple top)* 1x fluoride oxalate (grey top) Paediatric 2 mL tubes 1x citrate (blue top) 2x clotted blood (gold top) 2x lithium heparin (green top) 2x EDTA (purple top)* 1x fluoride oxalate (grey top) Neonatal 1.3 mL tubes 1x citrate (blue top) 1x clotted blood (gold top) 4x lithium heparin (green top) 2x EDTA (purple top)* 1x fluoride oxalate (grey top) *Send additional EDTA tube if requesting ACTH, as this requires extra plasma. Urine 2 samples (from one collection).   Transport samples to lab immediately. Samples for ammonia, insulin/C-peptide and ACTH must be on ice.

Normoglycaemic ketoacidosis profile

Request if blood pH <7.3, ketones in urine and normal blood glucose on POCT testing.

First line tests (in parallel with sepsis screening) Prothrombin time U&E, bicarbonate, calcium, LFT Ammonia FBC Glucose, lactate   Bloods for ketosis investigations 3-hydroxybutyrate Acyl carnitines R (please request blood spot acylcarnitines for first line investigations) Amino acids R   Collect urine Urine organic acids R   First line tests carried out in-house. Tests marked R are referred to external laboratories.

Samples required Send samples for blood culture to Microbiology separately. Blood Older children (adult 2 - 5 mL tubes) 1x citrate (blue top) 1x clotted blood (gold top) 2x lithium heparin (green top) 2x EDTA (purple top) 1x fluoride oxalate (grey top) Paediatric 2 mL tubes 1x citrate (blue top) 1x clotted blood (gold top) 2x lithium heparin (green top) 2x EDTA (purple top) 1x fluoride oxalate (grey top) Neonatal 1.3 mL tubes 1x citrate (blue top) 4x lithium heparin (green top) 2x EDTA (purple top) 1x fluoride oxalate (grey top) Urine 1 sample   Transport samples to lab immediately. EDTA for ammonia must be on ice.

Hyperammonaemia profile

Request if results from metabolic, hypoglycaemia or normoglycaemic ketoacidosis screens detect hyperammonaemia.

Hyperammonaemia bloods Ammonia Acyl carnitines R (please request blood spot acylcarnitines for first line investigations)  Amino acids R   Collect urine Urine organic acids R   First line tests carried out in-house. Tests marked R are referred to external laboratories.

Samples required Blood Older children (adult 2 - 5 mL tubes) 1x lithium heparin (green top) 1x EDTA (purple top) Paediatric 2 mL tubes 1x lithium heparin (green top) 1x EDTA (purple top) Neonatal 1.3 mL tubes 2x lithium heparin (green top) 1x EDTA (purple top) Urine 1 sample   Transport samples to lab immediately. EDTA for ammonia must be on ice.

Conjugated hyperbilirubinaemia profile

Request if patient has conjugated hyperbilirubinaemia (direct bilirubin >25% of total bilirubin).

Conjugated hyperbilirubinaemia bloods Cortisol Ferritin Thyroid function tests (TSH, fT4, fT3) Alpha-1 antitrypsin quantitation Amino acids R Alpha-1 antitrypsin phenotype R Galactose-1-phosphate uridyl transferase (Gal1PUT) R Immunoreactive trypsin (IRT) R   IRT is done as part of neonatal blood spot screening in patients up to 8 weeks. Please contact lab if this test is required to aid diagnosis in a symptomatic patient.   Collect urine Urine organic acids R   Second line investigations dependent on history, examination, laboratory findings and discussion with relevant specialist. First line tests carried out in-house. Tests marked R are referred to external laboratories.

Samples required Blood Older children (adult 2 - 5 mL tubes) 1x clotted blood (gold top) 1x lithium heparin (green top) or 1x EDTA (purple top)** Paediatric 2 mL tubes 2x clotted blood (gold top) 1x lithium heparin (green top) or 1x EDTA (purple top)** Neonatal 1.3 mL tubes 2x clotted blood (gold top) 2x lithium heparin (green top)** **Please avoid sending samples for Gal1PUT on a Friday as delays in delivery to referral lab may affect results. Urine 2 samples (from one collection).   Transport samples to lab immediately.

Cardiomyopathy profile

Point-of-care tests (on ward) - blood gases Routine laboratory blood tests U&E, bicarbonate, calcium, magnesium, phosphate, LFT, uric acid, cholesterol & triglyceride, TFT. FBC and film Lactate Additional investigations outlined below may be appropriate - please discuss with appropriate specialist. First line tests carried out in-house. Tests marked R are referred to external laboratories.

Samples required Blood Older children (adult 2 - 5 mL tubes) 1x clotted blood (gold top) 1x EDTA (purple top) 1x fluoride oxalate (grey top) Paediatric 2 mL tubes 1x clotted blood (gold top) 1x EDTA (purple top) 1x fluoride oxalate (grey top) Neonatal 1.3 mL tubes 2x lithium heparin (green top) 1x EDTA (purple top) 1x fluoride oxalate (grey top)   Transport samples to lab immediately.

Metabolic investigations (discuss with metabolic specialist) Ferritin, transferrin saturation (for investigation of haemochromatosis) CSF lactate (if mitochondrial disorder suspected) Intermediary metabolites: glucose free fatty acids R 3-hydroxybutyrate Acyl carnitines R (please request blood spot acylcarnitines for first line investigations)  Amino acids R Urine organic acids R White cell enzymes (lysosomal enzymes) R Urine glycosaminoglycans (mucopolysaccharides) R Transferrin isoforms R (for investigation of glycosylation disorders, patient must be >3 weeks old)   Immunology (discuss with Clinical Immunologist) Anti-nuclear antibodies Anti-DNA antibodies Cardiac antibodies Anti-streptolysin (ASO) titres   Genetic testing (discuss with genetics specialist): referred tests, laboratory depends on investigation required. Respiratory chain enzymes (mitochondrial studies) Barth syndrome

Ambiguous genitalia profile

Ambiguous genitalia bloods LH, FSH, oestradiol, testosterone Ferritin 17 hydroxyprogesterone R Renin R AMH Karyotype R  Request forms can be downloaded from the SE-GLH hub here: https://southeastgenomics.nhs.uk/glh/core-rd/   Collect urine Urine steroid profile R   First line tests carried out in-house. Tests marked R are referred to external laboratories.

Samples required Blood Older children (adult 2 - 5 mL tubes) 2x lithium heparin (green top) 1x clotted blood (gold top) 1x clotted blood (red top - NO GEL) 1x EDTA (purple top) Paediatric 2 mL tubes 2x lithium heparin (green top) 1x clotted blood (gold top) 1x clotted blood (red top - NO GEL) 1x EDTA (purple top) Neonatal 1.3 mL tubes 2x lithium heparin (green top) 2x clotted blood (gold top) 1x clotted blood (red top - NO GEL) 1x EDTA (purple top) Urine 1 sample   Transport samples to lab immediately.

Developmental delay profile 

Developmental delay bloods U&E, calcium, CK, uric acid, TFT FBC Ammonia Lactate Amino acids R   Collect urine Urine organic acids R Urine glycosaminoglycans (mucopolysaccharides) R   Additional investigations may be appropriate - please discuss with appropriate specialist.   First line tests carried out in-house. Tests marked R are referred to external laboratories.

Samples required Blood Older children (adult 2 - 5 mL tubes) 1x clotted blood (gold top) 2x EDTA (purple top) 1x fluoride oxalate (grey top) Paediatric 2 mL tubes 1x clotted blood (gold top) 2x EDTA (purple top) 1x fluoride oxalate (grey top) Neonatal 1.3 mL tubes 2x clotted blood (gold top) or 2x lithium heparin (green top) 2x EDTA (purple top) 1x fluoride oxalate (grey top) Urine 2 samples (from one collection).   Transport samples to lab immediately. EDTA for ammonia must be on ice.

Fits and seizures profile

Fits and seizures bloods U&E, calcium, uric acid Ammonia Plasma and CSF lactate Acyl carnitines R (please request blood spot acylcarnitines for first line investigations)  Amino acids R   Collect urine Urine organic acids R   Other more specific tests may be appropriate based on clinical signs and symptoms.   First line tests carried out in-house. Tests marked R are referred to external laboratories.

Samples required Blood Older children (adult 2 - 5 mL tubes) 1x clotted blood (gold top) 1x lithium heparin (green top) 1x EDTA (purple top) 1x fluoride oxalate (grey top) Paediatric 2 mL tubes 1x clotted blood (gold top) 1x lithium heparin (green top) 1x EDTA (purple top) 1x fluoride oxalate (grey top) Neonatal 1.3 mL tubes 2x lithium heparin (green top) 1x EDTA (purple top) 1x fluoride oxalate (grey top) Urine 1 sample. CSF (if indicated) 1x fluoride oxalate (grey top)   Transport samples to lab immediately. EDTA for ammonia must be on ice.