Bullous Ichthyosiform Erythroderma

• Bullous Ichthyosiform Erythroderma
• Epidermolytic Ichthyosis
• Superficial Epidermolytic Ichthyosis

• Confirmation of clinical diagnosis
• Prenatal diagnosis

• Capillary Sequencing

• 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma

• Acral Peeling Skin Syndrome
• Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome-1
• Autosomal Recessive Congenital Ichthyosis
• Bullous Ichthyosiform Erythroderma
• CEDNIK Syndrome
• Chanarin-Dorfman syndrome
• Chondrodysplasia Punctata (CDPX1)
• Clouston Syndrome
• Congenital Ichthyosiform Erythroderma, Non-Bullous
• Epidermolytic Ichthyosis
• Epidermolytic Palmoplantar Keratoderma (EPPK)
• Erythrokeratodermia Variabilis (EKV)
• Harlequin Ichthyosis
• Ichthyosis Prematurity Syndrome
• Ichthyosis, Spastic quadriplegia, and Mental Retardation
• Ichthyosis, X-linked (Steroid Sulfatase Deficiency)
• Keratitis-Ichthyosis-Deafness syndrome (KID syndrome)
• Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
• Lamellar Ichthyosis Type 1
• Lamellar Ichthyosis Type 2
• MEDNIK Syndrome
• Netherton Syndrome
• NISCH Syndrome
• Palmoplantar Keratoderma with SNHL
• Refsum Disease
• Sjogren Larsson Syndrome (SLS)
• Superficial Epidermolytic Ichthyosis

• 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.\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\"

• Next-Gen Sequencing