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Erythrokeratodermia Variabilis (EKV)
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.
Identification of the specific molecular basis of congential ichthyosis or related skin disorders
Genetic counseling and recurrence risk assessment
Option for prenatal testing in future pregnancies
As needed, based on the referring diagnosis and coverage achieved by the XomeDxSlice-Ichthyosis for a given patient, critical exons with a high yield of mutations will be filled-in by dideoxy sequencing. For any autosomal recessive gene, if one definitive mutation is found by XomeDxSlice sequencing, AND the gene fits the type of ichthyosis reported by the referring physician, capillary sequencing will be used to fill in sequence for exons that are not sufficiently covered (>10X) to find the second mutation. If no second mutation is found by sequencing, deletion/duplication analysis of that gene can be performed at no additional cost can be performed at no additional cost.
Patient samples sent for XomeDxSlice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\"