Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

Epidermolytic Ichthyosis

Epidermolytic Ichthyosis (EI) presents at birth with erythroderma, blisters or erosions, and larger areas of denuded skin. While skin fragility decreases with age, severe hyperkeratosis with a verrucous, ridged or cobblestone surface develops over time. Palms and soles may be severely involved or completely spared. There is a mosaic form of the disease, likely due […]

Epidermolytic Ichthyosis (EI) presents at birth with erythroderma, blisters or erosions, and larger areas of denuded skin. While skin fragility decreases with age, severe hyperkeratosis with a verrucous, ridged or cobblestone surface develops over time. Palms and soles may be severely involved or completely spared. There is a mosaic form of the disease, likely due to somatic mutation during embryonic development, in which the affected individual has features of the disease limited to certain areas of the skin, and often following the lines of Blaschko (so called ‘linear epidermolytic hyperkeratotic nevus’). A mild variant of EI with superficially peeling or denuded areas described as ‘molting’ or ‘Mauserung’ is known as superficial epidermolytic ichthyosis (SEI; previously termed ichthyosis bullosa of Siemens).

Tests Available

Congenital Ichthyosis XomeDxSlice

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CERS3, CLDN1, CYP4F22, EBP, ELOVL4, GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30), KRT1, KRT10, KRT2, KRT9, LIPN, LOR, NIPAL4 (Ichthyin), PEX7, PHYH, PNPLA1, PNPLA2, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24
Clinical Utility:
  • 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
Lab Method:
Next-gen Sequencing

ORDERING

Test Code:
708
Turnaround Time:
10-12 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81252x1, 81254x1, 81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
* For price inquiries please email zebras@genedx.com

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