Congenital Ichthyosis Slice

Concurrent analysis of multiple genes associated with itchthyoses, characterized by visible scaling and/or thickening of the skin, erythema, skin fragility, or abnormalities of the hair or nails at birth.

NY Approved

Test Overview

Clinical Utility

  • Identification of the specific molecular basis of congential ichthyosis or related skin disorders
  • Genetic counseling and recurrence risk assessment

Test Details

Genes

ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSL (ARSE), CASP14, CDSN, CERS3, CHST8, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, FLG, FLG2, GJB2, GJB3, GJB4, GJB6, KDSR, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, NIPAL4, NSDHL, PEX7, PHGDH, PHYH, PNPLA1, POMP, PSAT1, SDR9C7, SERPINB8, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24

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
  • Neonatal Ichthyosis-Sclerosing Cholangitis (NISCH) Syndrome
  • Netherton Syndrome
  • Neu-Laxova 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

Lab Method

  • Next-Gen Sequencing

Ordering Information

Test Code: 708
CPT Codes*: 81252x1, 81401x1, 81479x1
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs | Dried Blood Spots

*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.

Resources

Test Documents

Billing

Targeted Variant Testing

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