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Epidermolytic hyperkeratosis
Bullous ichthyosiform erythroderma
Ichthyosis bullosa of Siemens

  • KRT1 (keratin 1)
  • KRT10 (keratin 10)
  • KRT2e (keratin 2e)
Using genomic DNA obtained from buccal brushes (GeneDx kits only) or blood (1-5 mL in EDTA), mutations in keratin genes are identified first by examination of mutational hotspots. If no mutation is found on this preliminary screen, we perform complete sequencing of the coding region of the KRT1 and KRT10 keratin genes. Because there is a strong correlation between genotype and phenotype, we first screen KRT1 in patients who have palmar-plantar involvement, but screen KRT10 in those with normal palms and soles. KRT2e is screened preferentially in patients who have the clinical features (usually milder phenotype) and histologic features (epidermolysis of the upper spinous or granular layer) of Ichthyosis Bullosa of Siemens. Once a mutation is identified in an affected individual, mutation-specific testing for relatives and prenatal diagnosis is available.

Information Sheet, including prices and CPT codes Back To List
Consent for BCIE/EHK  
Consent for Mosiac EHK  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
EH, EHK, Bullous, Bullae, Ichthyosis bullosa, keratoderma, ichthyosis, hyperkeratosis, keratin, KRT2, KRT10, KRT1, KRT2A, KRT2E, Bullous, blister, bullae, hyperkeratosis

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