Turnaround times
The quoted turnaround time is from sample receipt in the laboratory, to results authorisation in the Laboratory Information Management system. The times do not include transport of specimen to the laboratory or the administrative process to print and post/email reports. Service users must allow for transport and reporting time when ordering tests.
Clinical background:
Urine hexanoyl glycine is increased in patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and multiple acyl-CoA dehydrogenase deficiency (MADD, glutaric aciduria type II). It may also found in urine in patients with severe ketosis. It may be difficult to detect hexanoylglycine in patients with MCADD by analysis of urine organic acids, particularly when the patient is stable.Quantitation of urine hexanoyl glycine by stable isotope dilution GC-MS is a more sensitive technique and is performed to confirm a diagnosis of MCADD identified on newborn screening. Levels are usually above the reference range in patients with MCADD, however in some rare cases urine hexanoyl glycine is not increased, therefore a normal result does not exclude the disorder.
Specimen container paediatric:
Plain universal container
Specimen container adult:
Plain universal container
Minimum volume paediatric:
2 mL urine
Minimum volume adult:
2 mL urine
Sample stability:
Store frozen
Transport requirements:
Local Trust requests: send sample at ambient temperatureExternal hospitals: store and send sample frozen.
Interpretation:
Increased hexanoyl glycine should be interpreted in context of other newborn screening results, blood spot acylcarnitines and urine organic acids.Quantitation is unreliable when creatinine concentration less than 1.0mmol/L.
Reference ranges:
< 1.0 mmol/mol creatinine