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GeneDx, Erythrokeratodermia Variabilis (EKV)
MessageCollect at NMCP only Mon-Thursday by 1200
Test Code
119
Alias/See Also
"Connexin Gene Testing; EKV; Mendes de Costa; Giroux-Barbeau; Erythrokeratodermia figurate variabilis; Keratosis rubra figurata
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CPT Codes
81479x1
Includes
Genes: GJB3 (Cx31), GJB4 (Cx30.3)
Preferred Specimen
A single tube with 1-5 mL whole blood in EDTA.
Instructions
Ship overnight at ambient temperature, using a cool pack in hot weather. Specimens may be refrigerated for 3 days prior to shipping.
Transport Temperature
ambient
Methodology
Capillary Sequencing
Report Available
4-5 weeks
Clinical Significance
This skin disorder presents in infancy with transient, erythematous patches that remain for minutes to hours or longer. In addition, hyperkeratosis develops which can be either generalized or localized and fixed. Both erythema and hyperkeratotic plaques have sharply demarcated edges. Palmoplantar keratoderma is a variable feature. Giroux-Barbeau type is associated with ataxia, usually evident in middle age.
