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Netherton syndrome (NTS)
Ichthyosis linearis circumflexa
SPINK5 (Serine Protease Inhibitor, Kazal-Type, 5)
Netherton syndrome (NTS) is an autosomal recessive congenital disorder of the skin, hair and the immune system, usually manifesting at birth with generalized redness and scaling or, rarely, with a collodion membrane. Generalized erythema and scaling may either persist lifelong, or develop into itchy, scaling plaques called ichthyosis linearis circumflexa. Often the disorder is associated with abnormalities of the hair shaft. Most patients have highly elevated serum levels of Immunoglobulin E. Mutation analysis of the SPINK5 gene involved in Netherton syndrome is offered by GeneDx. Using genomic DNA obtained from buccal (cheek) brushes or blood in EDTA, bi-directional DNA sequence of the coding portion of the SPINK5 gene (exons 1-33) is obtained and analyzed. Carrier testing of relatives and prenatal diagnosis in at-risk pregnancies is available once the mutations in the family are defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
CRI, ichthyosis, NTS, ichthyosis linearis circumflexa, trichorrhexis invaginata, bamboo hair, IgE, peeling skin syndrome, congenital ichthyosiform erythroderma, CIE, failure to thrive, hypernatremia, collodion baby
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