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PROBABLY GENETIC
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Week of Apr 13, 2026
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WEEKLY VARIANT ALERT
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CFTR
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Cystic fibrosis
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No new P/LP submissions this week. CFTR has 7,106 total across 132 labs.
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Patient Location
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📍
Rochester, MN
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Clinical History
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The patient presented at age 2 with recurrent sinopulmonary infections, chronic productive cough, and failure to thrive (weight <3rd percentile). Sweat chloride testing returned 78 mmol/L. Pancreatic insufficiency was confirmed with fecal elastase <100 µg/g. The patient was started on CFTR modulator therapy with improvement in FEV1 from 58% to 72% predicted over 8 months. Sputum cultures have intermittently grown Pseudomonas aeruginosa. Whole exome sequencing confirmed compound heterozygosity for the reported variant.
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Patient Details
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Ethnicity
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Northern European
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Testing Laboratory
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Mayo Clinic Genomics Laboratory
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Referring Indication
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Recurrent respiratory infections, failure to thrive
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Current Treatment
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Elexacaftor/tezacaftor/ivacaftor (Trikafta)
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Disease Severity
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Moderate — FEV1 72% predicted
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Key Biomarkers
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Sweat Cl⁻ 78 mmol/L | FEV1 72% | BMI 14.2 kg/m²
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Clinical Trial Eligibility
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Yes — 2 open trials within 150 miles
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Treating Physicians
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Sarah Chen, MD
Pediatric Pulmonology
Mayo Clinic · Rochester, MN
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Contact
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Michael Ramirez, MD, PhD
Cystic Fibrosis Center Director
Mayo Clinic · Rochester, MN
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Contact
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Jennifer Walsh, MD
Pediatric Gastroenterology
Mayo Clinic · Rochester, MN
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Contact
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David Park, MD
Pediatric Infectious Disease
Mayo Clinic · Rochester, MN
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Contact
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Lisa Kowalski, MS, CGC
Genetic Counselor
Mayo Clinic · Rochester, MN
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Contact
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Key Opinion Leaders
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Pierre-Régis Burgel, MD
Université Paris Cité and Institut Cochin, Inserm U1016, Paris, France.
4 publications on CFTR
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Contact
PubMed
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Clémence Martin, MD
Department of Respiratory Medicine and National Cystic Fibrosis Reference Centre, Cochin Hospital, A
2 publications on CFTR
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PubMed
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John F Engelhardt, MD
Department of Anatomy and Cell Biology, and.
2 publications on CFTR
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PubMed
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Isabelle Fajac, MD
Department of Respiratory Medicine and National Cystic Fibrosis Reference Centre, Cochin Hospital, A
3 publications on CFTR
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Contact
PubMed
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Marcus A Mall, MD
Department of Paediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Univ
2 publications on CFTR
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Contact
PubMed
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Top Submitting Labs
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1
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Labcorp Genetics (formerly Invitae), Labcorp
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742
P/LP
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2
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Women's Health and Genetics/Laboratory Corpor
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692
P/LP
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3
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Baylor Genetics
Houston, United States
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628
P/LP
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5
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Ambry Genetics
Aliso Viejo, United States
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448
P/LP
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6
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CFTR2
Baltimore, United States
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395
P/LP
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Recent Publications
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Wirth L, Lhomme A, Boboli H — Rev Med Liege · 2026-04
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Oztosun B, Durcan G, Gulumser SB et al. — Eur J Pediatr · 2026-04
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Manikya S, Vadhithala V, Kumar R et al. — Acta Paediatr · 2026-04
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Hussein MM, Nasr SZ, Kamel TB et al. — Pediatr Pulmonol · 2026-04
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Salvatore D, Campagna G, Padoan R et al. — J Clin Med · 2026-04
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Active Clinical Trials
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Hôpital Necker-Enfants Malades · NA
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Recruiting
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Centre Hospitalier Intercommunal Creteil · Phase 2
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Recruiting
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RTI International
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Enrolling By Invitation
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Vertex Pharmaceuticals Incorporated · Phase 3
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Active Not Recruiting
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Classification Breakdown
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P 31.9%
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LP 8.7%
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VUS 38.9%
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B/LB 20.5%
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