NEW: Track test progress in real time with our test tracker—now live in your provider portal.

Congenital Ichthyosis Slice

New York
Approved

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
  • 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

Test Code

708

CPT Codes*

81252x1, 81401x1, 81479x3

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.

Need something else?

Search More Tests