Congenital Ichthyosis Slice
New York
Approved
Genes
Conditions
- Acral Peeling Skin Syndrome
- Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome
- Autosomal Recessive Congenital Ichthyosis
- Bullous Ichthyosiform Erythroderma
- Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma (CEDNIK) Syndrome
- Chanarin-Dorfman syndrome
- Chondrodysplasia Punctata (CDPX1 and CDPX2)
- Clouston Syndrome
- Epidermolytic Ichthyosis
- Epidermolytic Palmoplantar Keratoderma (EPPK)
- Erythrokeratodermia Variabilis (EKV)
- Harlequin Ichthyosis
- Ichthyosis Follicularis with Atrichia and Photophobia (IFAP)
- Ichthyosis Linearis Circumflexa
- Ichthyosis Prematurity Syndrome
- Ichthyosis, Spastic quadriplegia, and Intellectual Disablity
- Ichthyosis Vulgaris
- Ichthyosis, X-linked (Steroid Sulfatase Deficiency)
- Keratitis-Ichthyosis-Deafness syndrome (KID syndrome)
- Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (KLICK) Syndrome
- Lamellar Ichthyosis
- Loricrin Keratoderma
- Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma (MEDNIK) Syndrome
- Netherton Syndrome
- Neu-Laxova Syndrome
- Neonatal Ichthyosis-Sclerosing Cholangitis (NISCH) Syndrome
- Olmsted Syndrome
- Palmoplantar Keratoderma
- Palmoplantar Keratoderma with SNHL
- Peeling Skin Syndrome (PSS)
- Progressive Symmetric Erythrokeratoderma (PSEK)
- Refsum Disease
- Restrictive Dermopathy
- Sjogren Larsson Syndrome (SLS)
- Superficial Epidermolytic Ichthyosis
Clinical Utility
- Identification of the specific molecular basis of congential ichthyosis or related skin disorders
- Genetic counseling and recurrence risk assessment
Lab Method
- Next-Gen Sequencing
Important Information
As needed, based on the referring diagnosis and coverage achieved by the Slice-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 Slice 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 Slice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.
Test Code
708
CPT Codes*
81252x1, 81401x1, 81479x1
ABN Required
No
Turnaround Time**
6 weeks (4 weeks for newborns 1 month)
Preferred Specimen
Alternative Specimen
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.
Test Documents
Billing
Targeted Variant Testing