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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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GLA
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Fabry disease
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No new P/LP submissions this week. GLA has 2,396 total across 81 labs.
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Patient Location
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📍
Philadelphia, PA
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Clinical History
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The patient experienced onset of acroparesthesias in the hands and feet beginning at age 12, initially attributed to growing pains. Angiokeratomas were noted on the lower trunk at age 18. The patient was diagnosed at age 28 after a brother received a diagnosis of Fabry disease. Cardiac MRI revealed mild concentric left ventricular hypertrophy (wall thickness 13mm). The patient has Stage 2 CKD with proteinuria (UPCR 0.8 g/g). The patient has been on enzyme replacement therapy for 6 years with stabilization of renal function.
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Patient Details
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Age at Diagnosis
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28 years
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Testing Laboratory
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Greenwood Genetic Center
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Referring Indication
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Acroparesthesias, angiokeratomas, cornea verticillata
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Current Treatment
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Agalsidase beta (Fabrazyme) q2w
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Disease Severity
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Classic phenotype — eGFR 62 mL/min, mild LVH
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Key Biomarkers
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alpha-Gal A: <0.5 nmol/hr/mL | Lyso-Gb3: 86 nM | eGFR: 62
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Clinical Trial Eligibility
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Yes — eligible for substrate reduction and gene therapy trials
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Treating Physicians
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Christopher Romano, MD
Medical Genetics
University of Pennsylvania · Philadelphia, PA
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Contact
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Priya Sharma, MD
Nephrology
Hospital of the University of Pennsylvania · Philadelphia, PA
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Contact
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William Hayes, MD
Cardiology
Penn Medicine · Philadelphia, PA
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Contact
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Margaret O'Brien, MD
Dermatology
Penn Medicine · Philadelphia, PA
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Contact
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Daniel Schwartz, MS, CGC
Genetic Counselor
Greenwood Genetic Center · Greenville, SC
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Contact
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Laura Fontana, MD
Neurology / Pain Management
Thomas Jefferson University Hospital · Philadelphia, PA
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Contact
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Top Submitting Labs
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1
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Genomenon, Inc, Genomenon, Inc
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1056
P/LP
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2
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Labcorp Genetics (formerly Invitae), Labcorp
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299
P/LP
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3
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Women's Health and Genetics/Laboratory Corpor
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167
P/LP
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4
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Eurofins Ntd Llc (ga)
Tucker, United States
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148
P/LP
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5
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Revvity Omics, Revvity
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131
P/LP
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6
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Genome-Nilou Lab
Tehran, Iran
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103
P/LP
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Recent Publications
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Toomey CM, Bhardwaj A, Kennedy N et al. — Transl Behav Med · 2026-04
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Malvagia S, Daniotti M, Tonin R et al. — Mol Genet Metab · 2026-04
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Kwon KW, Kim H, Kim H et al. — NPJ Vaccines · 2026-04
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Nguyen DD, Lam NHA, Nguyen DB — Asia Pac Allergy · 2026-04
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Holopainen R, Paukkunen M, Liuska J et al. — Osteoarthr Cartil Open · 2026-04
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Active Clinical Trials
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Tenaya Therapeutics
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Recruiting
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Mirati Therapeutics Inc. · Phase 3
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Active Not Recruiting
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University College, London · Phase 3
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Active Not Recruiting
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University Hospitals of Derby and Burton NHS Found · NA
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Active Not Recruiting
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Classification Breakdown
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P 38.1%
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LP 17.9%
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VUS 27.1%
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B/LB 16.9%
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