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Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients
  1. Chloe Miu Mak1,2,
  2. Wai-Kwan Siu1,2,
  3. Chun-Yiu Law1,3,
  4. Chi-Keung Wong2,
  5. Hon-Kit Lee2,
  6. Sam Yeung4,
  7. Chak-On Sham5,
  8. Kong Tse5,
  9. Hencher Han-Chih Lee1,
  10. Sammy Pak-Lam Chen1,
  11. Chor-Kwan Ching1,
  12. Chui-Kwan Au1,
  13. Wing-Tat Poon1,
  14. Ching-Wan Lam3,
  15. Ngai-Shan Kwong5,
  16. Albert Yan-Wo Chan1
  1. 1Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China
  2. 2Department of Clinical Pathology, Tuen Mun Hospital, Hong Kong SAR, China
  3. 3Department of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
  4. 4Information Technology Division, Tuen Mun Hospital, Hong Kong SAR, China
  5. 5Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong SAR, China
  1. Correspondence to Dr Chloe Miu Mak, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China; makm{at}


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.

  • Chemical Pathology
  • diagnostic screening
  • Inherited Pathology

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