Ichthyin(NIPAL4) Gene Sequencing

Forms and Documents

Test Details

NIPAL4(Ichthyin)
  • 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
  • Capillary Sequencing

Ordering

1153
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Brushes

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* 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. 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