Prevention Genetics Logo
Test Code 1163

Autosomal Recessive Congenital Ichthyosis (ARCI) via the CYP4F22 Gene

CYP4F22

N/A

Who is this test for?

Candidates for this test are patients with symptoms consistent with autosomal recessive congenital ichthyosis, particularly with whitish, grayish scaling in the periumbilical, low part of the body and buttocks, and hyperlinearity of palms and soles, and the family members of patients who have known CYP4F22 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CYP4F22.

Method
Sanger Sequencing
Specimen(s)

Blood, Saliva, or Buccal Swab

Order Options

OTHER OPTIONS
for standard institutional pricing.

Questions? We can help.

Getting support has never been easier. Connect with our team for assistance with anything from test selection to interpreting results. Use the live chat button or visit our Contact us page.