Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at

Ichthyin(NIPAL4) Gene Sequencing



NIPAL4 (Ichthyin)
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


Test Code:
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots


CPT Codes:
New York Approved:
ABN Required:
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
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  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. 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
  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. 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

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