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Pachyonychia congenita, types I, II
KRT16 (keratin 16)
KRT17 (keratin 17)
KRT6B (keratin 6b)
KRT6A (keratin 6a)
Using genomic DNA obtained from buccal brushes (GeneDx kits only) or blood (1-5 mL in EDTA), mutations in keratin genes are identified by examination of the mutational hotspots. If no mutation is found by this analysis, sequencing of the remainder of the gene(s) may be requested.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
PC1, PC2, Jadassohn-Lewandowsy, Jackson-Lawler, keratin, KRT16, KRT17, KRT6, KRT6a, KRT6b, nail
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