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Epidermolytic Ichthyosis (EI) presents at birth with erythroderma, blisters or erosions, and larger areas of denuded skin. While skin fragility decreases with age, severe hyperkeratosis with a verrucous, ridged or cobblestone surface develops over time. Palms and soles may be severely involved or completely spared. There is a mosaic form of the disease, likely due to somatic mutation during embryonic development, in which the affected individual has features of the disease limited to certain areas of the skin, and often following the lines of Blaschko (so called ‘linear epidermolytic hyperkeratotic nevus’). A mild variant of EI with superficially peeling or denuded areas described as ‘molting’ or ‘Mauserung’ is known as superficial epidermolytic ichthyosis (SEI; previously termed ichthyosis bullosa of Siemens).
Identification of the specific molecular basis of congential ichthyosis or related skin disorders
Genetic counseling and recurrence risk assessment
Preparation 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.