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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
  • Preparation for prenatal testing in future pregnancies

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

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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.