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Ichthyosis vulgaris (IV), with or without associated atopic dermatitis
FLG (Profilaggrin)
Ichthyosis vulgaris (IV) is the most common type of ichthyosis with an estimated prevalence of 1 in 250 to 400 individuals. IV usually manifests during infancy or early childhood. The skin is dry with fine, white scales on the extensor surfaces of the extremities and sparing of the large skin folds. The palms and soles show accentuated skin markings and the heels are furrowed or fissured. Generalized scaling, pruritus and heat intolerance are seen in more severe disease. Clinical symptoms and severity depend on season and climate, improving during the summer and with increasing humidity, and worsening in a dry, cold environment. IV is frequently associated with keratosis pilaris and features of atopic disease: atopic dermatitis, asthma, and allergic rhinitis. IV is due to loss-of-function mutations in the FLG gene encoding a major skin barrier protein, profilaggrin. Two mutations, R501X and c.2282del4, are very common among white individuals of Northern and Western European descent (combined carrier frequency is about 9%). In addition to their association with IV, both mutations are also considered to be major predisposing factors for atopic dermatitis (AD) and AD-associated asthma and allergic rhinitis.
Analysis of the FLG gene at GeneDx encompasses two specific mutations, R501X and c.2282del4, which together account for Ichthyosis vulgaris in the vast majority (80%-90%) of patients of North- or Western-European decent. Using genomic DNA obtained from buccal (cheek) swabs or blood (2-5cc in EDTA), the presence of these mutations is determined by restriction fragment analysis.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
FLG, atopic, eczema, dermatitis, allergic, asthma, rhinitis, hay fever, ichthyosis, scaling, filaggrin, profilaggrin, skin, epidermis, barrier
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