Test Code 8201
Epidermolytic Hyperkeratosis via the KRT1 Gene
KRT1
N/A
Who is this test for? | Candidates for this test are patients with symptoms consistent with epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichthyosis histrix, Curth-Macklin type and the family members of patients who have known KRT1 pathogenic variants. |
Method | Sequencing with CNV PGxome |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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