RT Journal Article
SR Electronic
T1 Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 1141
OP 1145
DO 10.1136/jclinpath-2012-200837
VO 65
IS 12
A1 Mak, Chloe Miu
A1 Siu, Wai-Kwan
A1 Law, Chun-Yiu
A1 Wong, Chi-Keung
A1 Lee, Hon-Kit
A1 Yeung, Sam
A1 Sham, Chak-On
A1 Tse, Kong
A1 Lee, Hencher Han-Chih
A1 Chen, Sammy Pak-Lam
A1 Ching, Chor-Kwan
A1 Au, Chui-Kwan
A1 Poon, Wing-Tat
A1 Lam, Ching-Wan
A1 Kwong, Ngai-Shan
A1 Chan, Albert Yan-Wo
YR 2012
UL http://jcp.bmj.com/content/65/12/1141.abstract
AB Aim Inborn errors of metabolism (IEM) are an unpopular and difficult subject and most clinicians are unfamiliar with them. Although chemical pathologists have a long-standing practice in advising test strategy and result interpretation especially from primary care, such consultations are usually informal, unstructured and those related to IEM are infrequently requested. This study aims to provide a formal electronic consultation service and to apply tandem mass spectrometry-based dried blood spot metabolic screening (DBSM) as a rapid first-line test for patients suspected of IEM. Methods DBSM and a chemical pathology consultation were ordered through the hospital computer terminals. DBSM detected 29 metabolic disorders. The clinical data and metabolic results for the 12-month period were reviewed. Results There were 279 consultations of which 209 were initiated by paediatricians and 70 by adult physicians. The main reasons for consultation were developmental delay, neurological abnormalities, unexplained biochemical abnormalities and monitoring of patients with IEM. There were 158 DBSM requests. One positive case of isovaleric acidaemia was detected. Conclusions All high-risk paediatric patients should have a DBSM and a timely electronic chemical pathology consultation as a rapid and cost-effective first-line screening. Provision of a visible, accessible and helpful consultation service enables professional reimbursement.