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Pachyonychia Congenita type 2 (PC2)

NEW YORK CLIENTS

Tests displaying the status “New York Approved: Yes” are approved or conditionally approved by New York State and do not require an NYS “NPL” exemption. Please note, for carrier/targeted variant tests the approval status depends on whether the gene is in an approved GeneDx single-gene or multi-gene test. In addition, carrier/targeted testing for any gene is automatically approved for relatives of existing GeneDx patients. In all other situations, complete the New York Exemption Form and fax it to the NYS Department of Health to obtain case-by-case permission before shipping the specimen to GeneDx.

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Pachyonychia congenita (PC) is characterized by thickened and friable finger and toe nails often apparent at birth or soon after. There are painful plaques of callus-like hyperkeratosis (keratoderma) on palms and soles with underlying blisters, hyperhidrosis and some individuals may have spiny follicular hyperkeratosis elsewhere on the body. Patients who also have natal teeth, alopecia and epidermoid cysts were previously described as having PC type 2. Patients with oral leukoplakia (a finding absent in PC type 2) were previously described as having PC type 1. However, recent genotype/phenotype correlation reports favor the more general nomenclature of pachyonychia congenita (PC) due to high phenotypic overlap between the subtypes. Heterozygous mutations in five keratin genes have been associated with PC: KRT16, KRT6A, KRT17, KRT6B, and KRT6C. Patients with KRT6C mutations typically have callus-like palmoplantar keratoderma with little or no nail dystrophy. In steatocystoma multiplex, multiple round or oval sebaceous (epidermoid) cysts develop, widely distributed over the back, anterior trunk, arms, scrotum, and thighs. Thickened nail plates, focal palmoplantar keratoderma and natal teeth are variable features.

Tests Available

KRT6B, KRT17 Hot Spots

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

KRT17, KRT6B

Disorders:

Pachyonychia Congenita type 2 (PC2)

Clinical Utility:

Confirmation of clinical diagnosis
Prenatal diagnosis

Ordering

Test Code:

2092

Turnaround Time:

6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

Billing

CPT Codes:

81479x1

New York Approved

Yes

ABN Required

Yes

* For price inquiries please email zebras@genedx.com

References

Van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121:1035-1038, 2003
Smith et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multipolex. J Invest Dermatol 1108:220-223, 1997
Terrinoni et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol 117:1391-1396, 2001