Metabolic Screening, Plasma / Urine

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 patientís 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