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ALOXE3 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ALOXE3
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis in any child born with a collodion membrane in whom a TGM1 mutation has been ruled out
  • Confirmation of the clinical diagnosis in any individual with non-bullous congenital ichthyosiform erythroderma
  • Identification of at-risk family members
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
1152
Turnaround Time:
7-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 757.39: Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 757.1: Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Lobard et al. Lipoxygenase-3 (ALOXE3) and 12B-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107-113, 2002.
  2. Dahlqvist et al., Congenital ichthyosis: Mutations in ichthyin associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet 44: 615-620, 2007.
  3. Lefevre et al. Mutations in ichthyin a new gene on chromosome 5q33, in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 13:2473-2482, 2004.
  4. Eckl et al. Mutation spectrum and functional analysis of epidermis-type lioxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61.

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