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)
Blue top tubeProthrombin time
Gold top tubeGreen top tubeU&E, bicarbonate, calcium, LFT
Purple top tubeAmmonia
Purple top tube
FBC
Grey top tubeGlucose, 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.

Blue top tube1x citrate (blue top)
Gold top tube1x clotted blood (gold top)
Green top tube
(or 1x lithium heparin (green top) for neonates)
Purple top tube2x EDTA (purple top)
Grey top tube1x 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)
Blue top tubeProthrombin time
Gold top tubeGreen top tubeU&E, bicarbonate, calcium, LFT
Purple top tubeAmmonia
Purple top tube
FBC
Grey top tubeGlucose, lactate

All first line tests carried out in-house.

Bloods during hypoglycaemic episode
Gold top tubeGreen top tubeCortisol 1
Gold top tubeGreen top tubeGrowth hormone 1
Green top tube3-hydroxybutyrate 1
Green top tube
Acyl carnitines 2
Green top tubeAmino acids 3
Gold top tubeFree fatty acids 3
Gold top tubeGreen top tubeInsulin and C-peptide 4
 
Collect first-passed urine
Urine reducing substances 1
Urine organic acids 3
 
Additional/ follow up tests
Toxicology (if clinical suspicions - contact lab)
Urine salicylate
Urine sulphonylureas
Urine ethanol
Gold top tubeIGF-1 4
Gold top tubeIGF-BP3 4
Purple top tubeACTH 5

1. Analysed in-house at BSUH.
2. Analysed at Department of Clinical Chemistry and Newborn Screening, Sheffield Children's Hospital, Sheffield S10 2TH
3. Analysed at Inherited Metabolic Diseases (IMD) Unit, St Thomas' Hospital, London SE1 7EH
4. Analysed at Peptide Hormone Laboratory, Royal Surrey Hospital, Guildford GU2 5XX
5. Analysed at Clinical Biochemistry, Royal London Hospital, London E1 2ES

 

Samples required

Send samples for blood culture to Microbiology separately.

Blood Older children (adult 2 - 5 mL tubes)
Blue top tube1x citrate (blue top)
Gold top tube1x clotted blood (gold top)
Green top tube
2x lithium heparin (green top)
Purple top tube2x EDTA (purple top)*
Grey top tube1x fluoride oxalate (grey top)
Paediatric 2 mL tubes
Blue top tube1x citrate (blue top)
Gold top tube2x clotted blood (gold top)
Green top tube
2x lithium heparin (green top)
Purple top tube2x EDTA (purple top)*
Grey top tube1x fluoride oxalate (grey top)
Neonatal 1.3 mL tubes Blue top tube1x citrate (blue top)
Gold top tube1x clotted blood (gold top)
Green top tube
4x lithium heparin (green top)
Purple top tube2x EDTA (purple top)*
Grey top tube1x 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. 3-hydroxybutyrate must be analysed within 30 minutes (regret method is not suitable for neonates <4 weeks).

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)
Blue top tubeProthrombin time
Gold top tubeGreen top tubeU&E, bicarbonate, calcium, LFT
Purple top tubeAmmonia
Purple top tube
FBC
Grey top tubeGlucose, lactate

All first line tests carried out in-house.

Bloods for ketosis investigations
Green top tube3-hydroxybutyrate 1
Green top tube
Acyl carnitines 2
Green top tubeAmino acids 3
 
Collect urine
Urine organic acids 3
 
1. Analysed in-house at BSUH.
2. Analysed at Department of Clinical Chemistry and Newborn Screening, Sheffield Children's Hospital, Sheffield S10 2TH
3. Analysed at Inherited Metabolic Diseases (IMD) Unit, St Thomas' Hospital, London SE1 7EH

 

Samples required

Send samples for blood culture to Microbiology separately.

Blood Older children (adult 2 - 5 mL tubes)
Blue top tube1x citrate (blue top)
Gold top tube1x clotted blood (gold top)
Green top tube2x lithium heparin (green top)
Purple top tube2x EDTA (purple top)
Grey top tube1x fluoride oxalate (grey top)
Paediatric 2 mL tubes
Blue cap tube1x citrate (blue top)
Gold top tube1x clotted blood (gold top)
Green top tube
2x lithium heparin (green top)
Purple top tube2x EDTA (purple top)
Grey top tube1x fluoride oxalate (grey top)
Neonatal 1.3 mL tubes Blue cap tube1x citrate (blue top)
Green top tube
4x lithium heparin (green top)
Purple top tube2x EDTA (purple top)
Grey top tube1x fluoride oxalate (grey top)
Urine 1 sample

 

Transport samples to lab immediately. EDTA for ammonia must be on ice. 3-hydroxybutyrate must be analysed within 30 minutes (regret method is not suitable for neonates <4 weeks).

Hyperammonaemia profile

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

Hyperammonaemia bloods
Purple top tubeAmmonia 1
Green top tube
Acyl carnitines 2
Green top tubeAmino acids 3

All first line tests carried out in-house.

 
Collect urine
Urine organic acids 3
 
1. Analysed in-house at BSUH.
2. Analysed at Department of Clinical Chemistry and Newborn Screening, Sheffield Children's Hospital, Sheffield S10 2TH
3. Analysed at Inherited Metabolic Diseases (IMD) Unit, St Thomas' Hospital, London SE1 7EH

 

Samples required

Blood Older children (adult 2 - 5 mL tubes)
Green top tube
1x lithium heparin (green top)
Purple top tube1x EDTA (purple top)
Paediatric 2 mL tubes
Green top tube
1x lithium heparin (green top)
Purple top tube1x EDTA (purple top)
Neonatal 1.3 mL tubes
Green top tube
2x lithium heparin (green top)
Purple top tube1x 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
Gold top tubeGreen top tubeCortisol 1
Gold top tubeGreen top tubeFerritin 1
Gold top tubeGreen top tubeThyroid function tests (TSH, fT4, fT3) 1
Gold top tubeAlpha-1 antitrypsin quantitation 1
Green top tubeAmino acids 3
Gold top tubeAlpha-1 antitrypsin phenotype 6
Grey top tubeGreen top tubeGalactose-1-phosphate uridyl transferase (Gal1PUT) 7
Immunoreactive trypsin (IRT) 8
 
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 reducing substances 1
Urine organic acids 3
 

Second line investigations dependent on history, examination, laboratory findings and discussion with relevant specialist.

 
1. Analysed in-house at BSUH.
3. Analysed at Inherited Metabolic Diseases (IMD) Unit, St Thomas' Hospital, London SE1 7EH
6. Analysed at Protein Reference Unit, St George's Hospital, London SW17 0NH
7. Analysed at Biochemical Genetics, Guy's Genetics Centre, Guy's Hospital, London SE1 9RT
8. Analysed at Chemical Pathology, Great Ormond Street Hospital, London WC1N 3JH

 

Samples required

Blood Older children (adult 2 - 5 mL tubes)
Gold top tube1x clotted blood (gold top)
Green top tube
1x lithium heparin (green top) or
Purple top tube1x EDTA (purple top)**
Paediatric 2 mL tubes
Gold top tube2x clotted blood (gold top)
Green top tube
1x lithium heparin (green top) or
Purple top tube1x EDTA (purple top)**
Neonatal 1.3 mL tubes Gold top tube2x clotted blood (gold top)
Green top tube
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
Gold top tubeGreen top tubeU&E, bicarbonate, calcium, magnesium, phosphate, LFT, uric acid, cholesterol & triglyceride, TFT.
Purple top tubeFBC and film
Grey top tube
Lactate

All first line tests carried out in-house.

Additional investigations outlined below may be appropriate - please discuss with appropriate specialist.

 

 

Samples required

Blood Older children (adult 2 - 5 mL tubes)
Gold top tube
1x clotted blood (gold top)
Purple top tube1x EDTA (purple top)
Grey top tube1x fluoride oxalate (grey top)
Paediatric 2 mL tubes
Gold top tube
1x clotted blood (gold top)
Purple top tube1x EDTA (purple top)
Grey top tube1x fluoride oxalate (grey top)
Neonatal 1.3 mL tubes
Green top tube
2x lithium heparin (green top)
Purple top tube1x EDTA (purple top)
Grey top tube1x fluoride oxalate (grey top)

 

Transport samples to lab immediately.

Metabolic investigations (discuss with metabolic specialist)
Gold top tubeFerritin, transferrin saturation (for investigation of haemochromatosis) 1
Grey top tubeCSF lactate (if mitochondrial disorder suspected) 1
Intermediary metabolites:
Grey top tubeglucose 1
Gold top tube
free fatty acids 3
Green top tube3-hydroxybutyrate 1
Green top tubeAcyl carnitines 2
Green top tubeAmino acids 3
Urine organic acids 3
Green top tubeWhite cell enzymes 7
Urine glycosaminoglycans 7
Gold top tubeTransferrin isoforms (for investigation of glycosylation disorders, patient must be >3 weeks old) 9
 
Immunology (discuss with Clinical Immunologist)
Gold top tubeAnti-nuclear antibodies 1
Gold top tubeAnti-DNA antibodies 1
Gold top tubeCardiac antibodies
Gold top tubeAnti-streptolysin (ASO) titres 1
 
Genetic testing (discuss with genetics specialist): referred tests, laboratory depends on investigation required.
Respiratory chain enzymes (mitochondrial studies)
Barth syndrome
 
 
1. Analysed in-house at BSUH.
2. Analysed at Department of Clinical Chemistry and Newborn Screening, Sheffield Children's Hospital, Sheffield S10 2TH
3. Analysed at Inherited Metabolic Diseases (IMD) Unit, St Thomas' Hospital, London SE1 7EH
7. Analysed at Biochemical Genetics, Guy's Genetics Centre, Guy's Hospital, London SE1 9RT
8. Analysed at Chemical Pathology, Great Ormond Street Hospital, London WC1N 3JH
9. Analysed at Neuroimmunology & CSF Laboratory, Institute of Neurology, Queen Square, London WC1N 3BG

Ambiguous genitalia profile

Ambiguous genitalia bloods
Gold top tubeGreen top tubeLH, FSH, oestradiol, testosterone 1
Red top tube17 hydroxyprogesterone 5
Purple top tubeRenin 10
Gold top tubeAMH 1
Green top tube
Karyotype 12
 
Complete the consent form for genetic testing - karyotyping cannot be processed without it.
 
Collect urine
Urine steroid profile 13
 
1. Analysed in-house at BSUH.
5. Analysed at Clinical Biochemistry, Royal London Hospital, London E1 2ES
10. Analysed at Clinical Biochemistry, King's College Hospital, London SE5 9RS
12. Analysed at Cytogenetics, Guy's Genetics Centre, Guy's Hospital, London SE1 9RT
13. Analysed at Clinical Biochemistry, UCLH, London W1T 4EU

 

Samples required

Blood Older children (adult 2 - 5 mL tubes)
Green top tube
2x lithium heparin (green top)
Gold top tube
1x clotted blood (gold top)
Red top tube1x clotted blood (red top - NO GEL)
Purple top tube1x EDTA (purple top)
Paediatric 2 mL tubes
Green top tube
2x lithium heparin (green top)
Gold top tube
1x clotted blood (gold top)
Red top tube1x clotted blood (red top - NO GEL)
Purple top tube1x EDTA (purple top)
Neonatal 1.3 mL tubes
Green top tube
2x lithium heparin (green top)
Gold top tube
2x clotted blood (gold top)
Red top tube1x clotted blood (red top - NO GEL)
Purple top tube1x EDTA (purple top)
Urine 1 sample

 

Transport samples to lab immediately.

Developmental delay profile 

Developmental delay bloods
Gold top tubeGreen top tubeU&E, calcium, CK, uric acid, TFT 1
Purple top tubeFBC 1
Purple top tubeAmmonia 1
Grey top tubeLactate 1
Green top tube
Amino acids 3
 
Collect urine
Urine organic acids 3
Urine glycosaminoglycans 7
 
Additional investigations may be appropriate - please discuss with appropriate specialist.
 
 
1. Analysed in-house at BSUH.
3. Analysed at Inherited Metabolic Diseases (IMD) Unit, St Thomas' Hospital, London SE1 7EH
7. Analysed at Biochemical Genetics, Guy's Genetics Centre, Guy's Hospital, London SE1 9RT

 

Samples required

Blood Older children (adult 2 - 5 mL tubes)
Gold top tube
1x clotted blood (gold top)
Purple top tube2x EDTA (purple top)
Grey top tube1x fluoride oxalate (grey top)
Paediatric 2 mL tubes
Gold top tube
1x clotted blood (gold top)
Purple top tube2x EDTA (purple top)
Grey top tube1x fluoride oxalate (grey top)
Neonatal 1.3 mL tubes
Gold top tube2x clotted blood (gold top) or
Green top tube
2x lithium heparin (green top)
Purple top tube2x EDTA (purple top)
Grey top tube1x 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
Gold top tubeGreen top tubeU&E, calcium, uric acid 1
Purple top tubeAmmonia 1
Grey top tubePlasma and CSF lactate 1
Green top tubeAcyl carnitines 2
Green top tube
Amino acids 3
 
Collect urine
Urine organic acids 3
 
Other more specific tests may be appropriate based on clinical signs and symptoms.
 
1. Analysed in-house at BSUH.
2. Analysed at Department of Clinical Chemistry and Newborn Screening, Sheffield Children's Hospital, Sheffield S10 2TH
3. Analysed at Inherited Metabolic Diseases (IMD) Unit, St Thomas' Hospital, London SE1 7EH

 

Samples required

Blood Older children (adult 2 - 5 mL tubes)
Gold top tube
1x clotted blood (gold top)
Green top tube1x lithium heparin (green top)
Purple top tube1x EDTA (purple top)
Grey top tube1x fluoride oxalate (grey top)
Paediatric 2 mL tubes
Gold top tube
1x clotted blood (gold top)
Green top tube1x lithium heparin (green top)
Purple top tube1x EDTA (purple top)
Grey top tube1x fluoride oxalate (grey top)
Neonatal 1.3 mL tubes
Green top tube
2x lithium heparin (green top)
Purple top tube1x EDTA (purple top)
Grey top tube1x fluoride oxalate (grey top)
Urine
1 sample.
CSF (if indicated)
Grey top tube1x fluoride oxalate (grey top)

 

Transport samples to lab immediately. EDTA for ammonia must be on ice.