TürkiyeDiagnosis and screening
In biotinidase screening, where the sample is taken from the blood spot affects the result
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
A laboratory study in Ankara examined factors that affect the result of biotinidase screening. Samples taken from the edge of the blood spot gave higher results. When the blood was diluted, the enzyme was measured higher than it really was. About one tenth of the measured enzyme came from white blood cells. The authors recommend taking the sample from the middle of the spot.
What does it mean for patients and families?
These findings may reduce false results in the screening test. If a result is doubtful, an additional test is done.
Source
Scientific paper: The impact of hematocrit, punch location, and cellular interference on neonatal screening for biotinidase deficiency. The Turkish Journal of Pediatrics, 2026. DOI: 10.24953/turkjpediatr.2026.6966 · PubMed 41871562
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Biotinidase deficiency
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.