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Lamellar ichthyosis (type 1)
Collodion baby
TGM1 (transglutaminase-1)
Lamellar ichthyosis is a severe, autosomal recessive skin condition. A collodion membrane is usually present at birth. After the membrane is shed, the patient develops white-to-brown plate-like scale, often over the entire body. There may be ectropium and eclabium (out-turning of the eyelids and mouth) due to tautness of the skin. Palms and soles may be thick and severely involved. Alopecia is a common finding. Mutations in TGM1 account for the vast majority of mild to classic/severe non-erythrodermic lamellar ichthyosis. Patients with an erythrodermic phenotype (non-bullous congenital ichthyosiform erythroderma; NBCIE) may have mutation in ALOXE3 or ALOX12B. Mutations in the ABC transporter gene ABCA12 were identified in patients with the presentation of harlequin ichthyosis as well as a few patients with lamellar ichthyosis (type 2) from Northern Africa (
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to see the listing for harlequin ichthyosis and lamellar ichthyosis type 2).
Mutations are identified by sequence analysis of TGM1 in either 1) genomic DNA (collected with a GeneDx buccal brush kit, or from 1-5 ml EDTA blood) or, alternatively, 2) complementary DNA isolated from a fresh 2mm skin punch biopsy. If analysis is to be done using cDNA, the sample must be placed in a special solution, which we will send to you upon request, and buccal brushes should also be collected. After overnight refrigeration, the skin biopsy sample can then be shipped to GeneDx at ambient temperature by regular or priority mail. Mutation analysis of the ABCA12 gene in Harlequin ichthyosis or Lamellar ichthyosis (
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for information) and of the ALOXE3 and ALOX12B genes in NBCIE (
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for information) are available at GeneDx.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
lamellar, ichthyosis, LI, ichthyosis, icthyosis, TGM, CRI, TGM1
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