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Faculty of Medical Sciences

Validation of blood collection methods for home sampling in patients with inherited metabolic diseases

Dijkstra, A.M. (Allysa) (2021) Validation of blood collection methods for home sampling in patients with inherited metabolic diseases. thesis, Medicine.

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Abstract

Introduction: Many Inborn Metabolic Diseases (IMD) require regular monitoring for optimal treatment. Current monitoring is done by venous blood sampling in the hospital and at home using dried blood spots (DBS). However, DBS sampling suffers several analytical challenges. Therefore, the aim of this study is to evaluate the use of four alternative blood sampling methods (Whole blood in: Lithium-Heparin tubes (LH), EDTA tubes, HemCol tubes and the MITRA tips) for home sampling in IMD monitoring. Methods: To assess suitability of the LH, EDTA and HemCol tubes for home sampling, short�term stability of amino acids and agreement of results compared to measurements in LH plasma (reference method) was assessed using Passing and Bablok regression analyses and Bland Altman plots. To set a first step towards the validation of the novel MITRA tips for home sampling, linearity, precision and correlation of phenylalanine and tyrosine concentrations in MITRA tips compared to LH plasma and DBS was assessed. Results: Results showed that 1) blood from LH and EDTA tubes is only suitable for home sampling in a few IMDs, 2) the novel HemCol tubes are unsuitable for home sampling and 3) first results from the MITRA tips are very encouraging, but more research is needed to evaluate the suitability of the MITRA tips for home sampling in IMDs. Conclusions: This study showed that we have not yet found a good alternative for DBS sampling. However, the MITRA tips are worth investigating more in the future.

Item Type: Thesis (UNSPECIFIED)
Supervisor name: Spronsen, prof. dr. F.J. van and Heiner-Fokkema, dr. M.R.
Faculty: Medical Sciences
Date Deposited: 06 Jan 2022 11:15
Last Modified: 06 Jan 2022 11:15
URI: https://umcg.studenttheses.ub.rug.nl/id/eprint/2970

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