Free the Data!
Please consider submitting BRCA1/2 testing results from your patients to www.sharingclinicalreports.org.
See: http://nyti.ms/14hUJsu for an explanation of the issue.
Thank you, Your GeneDx Team

KRT6A Gene Sequencing

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

KRT6A

Disorders:

• Pachyonychia Congenita type 1 (PC1)

Clinical Utility:

• Confirmation of clinical diagnosis
• Prenatal diagnosis

Lab Method:

Capillary Sequencing

ORDERING

Test Code:

2094

Turnaround Time:

6-8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

NY State Approved:

Yes

BILLING

CPT Codes:

81479x1

Billing Information:

View Billing Policy

ICD Codes:

• 759.39: Congenital Keratoderma

REFERENCES

1. 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
2. Van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121:1035-1038, 2003
3. 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

Back To Top