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Ichthyosis Prematurity Syndrome
Neonates with Ichthyosis Prematurity Syndrome (IPS) are born prematurely due to complications such as polyhydramnios in the second trimester of pregnancy. Newborns present at birth with a thick, caseous, desquamating epidermis. Asphyxia, respiratory complications, and transient eosinophilia may occur. Life-threatening complications cease after the perinatal period, and skin findings transition to a mild form of generalized ichthyosis, often associated with severe pruritis. Many patients also experience food/respiratory allergies with elevated IgE levels and serum eosinophilia, features typically indicative of atopic diathesis. The clinical diagnosis of IPS can be supported by pathognomonic electron microscopic findings in a skin biopsy specimen showing trilamellar membrane aggregations in the upper epidermis.
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.\\\\\\\\\\\\\\\"