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Large Mitochondrial Deletions Detected from Blood, Saliva, or Buccal Swab in a Single Clinical Genetic Testing Laboratory

ESHG

Gothenburg, Sweden, June 13- 2026

Poster presentation: Large Mitochondrial Deletions Detected from Blood, Saliva, or Buccal Swab in a Single Clinical Genetic Testing Laboratory

Authors: von Nandelstadh P, Andreevskaya M, Mikk M-L, Perez-Carro R, Gandia M, Pelttari L, Valeiras B, Iivonen A-P, Segura Castell M, Esperon U-S, Gordo G, Woldegebriel r, Taylor J, Baquero Vaquer A, Alakurtti K, Wells K, Väisänen A, Kaasinen E, Djupsjöbacka J, Muona M, Kytölä V, Valori M, Salmenperä P, Tuupanen S, Koskinen L, Koskenvuo J

Medical Specialty: Genetics

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

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