Quantitative determination of acylcarnitine profile in DBS by the LC-MS/MS technique
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Test objective: Detection and monitoring of inborn defects of metabolism, including disorders of beta-oxidation of fatty acids and organic acidaemias. This test may also be helpful:
- as a second-tier test in case of abnormal results of newborn screening
- in case of abnormal results of other tests, such as organic acid profile
- in case of the need to rule out metabolic disorders before initiating a ketogenic diet.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
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Analysed substances:
acylcarnitines: C0, C2, C3, C3DC, C4, C4-OH, C4DC, C5:1, C5, C5-OH, C5DC, C6, C6DC, C8, C10:2, C10, C12, C14, C14:1, C16, C16-OH, C18 :1, C18, C18-OH - Type of test material: Dried blood spot
- Test category: DBS, Metabolomics
Acylcarnitine profile testing from dried blood spot — patient-centric sampling
Masdiag Laboratory offers acylcarnitine profile analysis from dried blood spot (DBS) using validated LC-MS/MS methodology. DBS is a patient-centric sampling approach — the patient collects a few drops of capillary blood at home with a simple finger prick, dries the sample on filter paper, and ships it to our laboratory via standard post. No clinic visit. No cold chain. No venipuncture.
This approach is increasingly adopted by supplement companies, nutraceutical brands, health tech platforms and clinical research organisations as a scalable, convenient alternative to conventional blood testing.
Masdiag participates in the NSQAP (Newborn Screening Quality Assurance Program) for independent verification of our acylcarnitine testing accuracy.
Test material: Dried blood spot (DBS), serum, plasma | Method: LC-MS/MS | ISO 15189 compliant | Available for: individual patients · newborn screening programmes · metabolic disorder clinics · international partners