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Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders

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Department of Medical Biochemistry, Immunology & Toxicology, University Hospital of Wales, Cardiff CF14 4XW, UK
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School of Medicine, Cardiff University, University Hospital Wales, Cardiff CF14 4XW, UK
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Derriford Combined Laboratory, University Hospitals Plymouth NHS Trust, Plymouth PL6 8DH, UK
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Biochemical Sciences, Viapath, Guys & St Thomas’ NHSFT, London SE1 7EH, UK
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GKT School of Medical Education, King’s College, London SE1 1UH, UK
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Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(2), 26; https://doi.org/10.3390/ijns6020026
Received: 14 February 2020 / Revised: 6 March 2020 / Accepted: 8 March 2020 / Published: 26 March 2020
Monitoring of patients with inherited metabolic disorders (IMDs) using dried blood spot (DBS) specimens has been routinely used since the inception of newborn screening (NBS) for phenylketonuria in the 1960s. The introduction of flow injection analysis tandem mass spectrometry (FIA–MS/MS) in the 1990s facilitated the expansion of NBS for IMDs. This has led to increased identification of patients who require biochemical monitoring. Monitoring of IMD patients using DBS specimens is widely favoured due to the convenience of collecting blood from a finger prick onto filter paper devices in the patient’s home, which can then be mailed directly to the laboratory. Ideally, analytical methodologies with a short analysis time and high sample throughput are required to enable results to be communicated to patients in a timely manner, allowing prompt therapy adjustment. The development of ultra-performance liquid chromatography (UPLC–MS/MS), means that metabolic laboratories now have the capability to routinely analyse DBS specimens with superior specificity and sensitivity. This advancement in analytical technology has led to the development of numerous assays to detect analytes at low concentrations (pmol/L) in DBS specimens that can be used to monitor IMD patients. In this review, we discuss the pre-analytical, analytical and post-analytical variables that may affect the final test result obtained using DBS specimens used for monitoring of patients with an IMD. View Full-Text
Keywords: inherited metabolic disorders; monitoring; treatment ranges; dried blood spots; haematocrit; certified reference material; precision; accuracy; bias inherited metabolic disorders; monitoring; treatment ranges; dried blood spots; haematocrit; certified reference material; precision; accuracy; bias
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Moat, S.J.; George, R.S.; Carling, R.S. Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders. Int. J. Neonatal Screen. 2020, 6, 26.

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