Detection of TPSAB1 copy number variation for the diagnosis of hereditary alpha-tryptasemia by quantitative PCR

Clin Exp Allergy. 2024 Jan;54(1):82-85. doi: 10.1111/cea.14413. Epub 2023 Oct 18.

M Docquier¹, T Nouspikel^{2

3}, J L Blouin^{2

3}, M Abramowicz^{2

3}, J D Seebach⁴, D Spoerl^{4

5}

¹ iGE3 (Institute of Genetics and Genomics of Geneva) Genomics platform, University of Geneva, Geneva, Switzerland.
² Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
³ Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
⁴ Division of Clinical Immunology and Allergy, Department of Medicine, University Hospital and Faculty of Medicine, Geneva, Switzerland.
⁵ Division of Laboratory Medicine, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland.

No abstract available

Keywords: TPSAB1 gene; anaphylaxis; copy number variation; hereditary alpha tryptasemia; mastocytosis.

MeSH terms