Genetic findings from multi-gene panel for primary ciliary dyskinesia.
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Presenting Author - Victoria Howell, MS, CGC; Co-Author - Johanna Huusko, PhD; Co-Author - Manuel Bernal, PhD; Co-Author - Allison Faber, PhD; Co-Author - Satu Valo, PhD; Co-Author - Kimberly Gall, MSc., CGC; Co-Author - Lotta Koskinen, PhD; Co-Author - Tiia Kangas-Kontio, PhD; Co-Author - Inka Saarinen, MSc.; Co-Author - Ville Kytola, PhD; Co-Author - Pauli Siivonen, MS; Co-Author - Janica Djupsjöbacka, PhD; Co-Author - Massimiliano Gentile, PhD; Co-Author - Pertteli Salmenpera, PhD; Co-Author - Jussi Paananen, PhD; Co-Author - Samuel Myllykangas, PhD; Co-Author - Juha W. Koskenvuo, MD, PhD;
Meta Tag
Genetic Testing
NextGen Sequencing
Respiratory System
Sequencing
Variant Detection
Co-Author Johanna Huusko, PhD
Co-Author Manuel Bernal, PhD
Co-Author Allison Faber, PhD
Co-Author Satu Valo, PhD
Co-Author Kimberly Gall, MSc., CGC
Co-Author Lotta Koskinen, PhD
Co-Author Tiia Kangas-Kontio, PhD
Co-Author Inka Saarinen, MSc.
Co-Author Ville Kytola, PhD
Co-Author Pauli Siivonen, MS
Co-Author Janica Djupsjöbacka, PhD
Co-Author Massimiliano Gentile, PhD
Co-Author Pertteli Salmenpera, PhD
Co-Author Jussi Paananen, PhD
Co-Author Samuel Myllykangas, PhD
Co-Author Juha W. Koskenvuo, MD, PhD
Presenting Author Victoria Howell, MS, CGC
Keywords
expanded genetic testing
primary ciliary dyskinesia
next-generation sequencing
multigene panel
molecular diagnosis
pathogenic variants
copy number variants
exon deletions
HYDIN gene
CFTR variants

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