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PROBABLY GENETIC
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Week of Jun 15, 2026
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VARIANT ALERT
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HYDIN
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Primary ciliary dyskinesia 5
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New lab alert: The Research Institute of Tuberculosis, Japan Anti submitted P/LP data for HYDIN for the first time.
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New Submissions
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The Research Institute of Tuberculosis, Japan Anti · Primary ciliary dyskinesia 5
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Pathogenic
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Key Opinion Leaders
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Ranjit Rai, MD
PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK.
2 publications on HYDIN
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PubMed
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Hannah M Mitchison
Great Ormond Street Institute of Child Health, University College London, London, UK.
2 publications on HYDIN
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PubMed
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Top Submitting Labs
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1
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Royal Brompton Clinical Genetics And Genomics
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20
P/LP
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2
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GeneDx
Gaithersburg, United States
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6
P/LP
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4
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CeGaT Center for Human Genetics Tuebingen
Tuebingen, Germany
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3
P/LP
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5
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Revvity Omics, Revvity
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3
P/LP
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6
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Neuberg Centre For Genomic Medicine, NCGM
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3
P/LP
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Recent Publications
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Xu H, Jin X, Chen M et al. — Front Genet · 2026-05
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Zou H, Qin CY, Suthar TK et al. — Antioxidants (Basel) · 2026-05
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Wang Y, Zhang L, Xia X et al. — Oncol Lett · 2026-04
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Quaynor SK, Mensah GO, Busch T et al. — Res Sq · 2026-04
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Frolov A, Maglasang M, Guzman M et al. — Cureus · 2026-03
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Patient Advocacy
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NORD (National Organization for Rare Disorders)
Master directory — search for the specific disease to find affiliated patient orgs and registries.
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Classification Breakdown
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P 3.7%
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LP 8.4%
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VUS 54.8%
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B/LB 33.1%
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