Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients

Autor: Chui-Kwan Au, Chor-Kwan Ching, Kong Tse, Ching-Wan Lam, Hencher Han-Chih Lee, Ngai-Shan Kwong, Hon-Kit Lee, Chak-On Sham, Chun-Yiu Law, Wing-Tat Poon, Albert Yan-Wo Chan, Chi-Keung Wong, Chloe M Mak, Sammy Pak-Lam Chen, Sam Yeung, Wai-Kwan Siu
Rok vydání: 2012
Předmět:
Zdroj: Journal of Clinical Pathology. 65:1141-1145
ISSN: 1472-4146
0021-9746
DOI: 10.1136/jclinpath-2012-200837
Popis: 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.
Databáze: OpenAIRE