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פאנלים

Hidradenitis Suppurativa

GC_42

Last update: 18.01.2026

Hidradenitis suppurativa (HS) is a chronic inflammatory disorder characterized by recurrent painful nodules, abscesses, sinus tract formation, and scarring, most commonly affecting intertriginous areas. Although most cases are multifactorial, a subset of patients with early-onset, familial, severe, or syndromic disease may have an identifiable monogenic cause or genetic predisposition.

This panel includes genes associated with familial hidradenitis suppurativa, disorders of γ-secretase signaling, and selected follicular occlusion and autoinflammatory syndromes that may present with hidradenitis-like disease.

This panel is recommended for patients with severe, early-onset, familial, or syndromic hidradenitis suppurativa, particularly when accompanied by acne conglobata, pyoderma gangrenosum, sterile arthritis, or other inflammatory or follicular-occlusion manifestations.
FGFR2, GJB2, NCSTN, PSEN1, PSENEN, PSTPIP1

ClinVar P/LP variants (IDs) not covered: -

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