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Test Details
Expand Genes
GJB6 (Cx30)
- Confirmation of the clinical diagnosis
- To distinguish between different forms of ectodermal dysplasias
- Prenatal diagnosis in families with known mutation
Ordering
157
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
Billing
81479x1
Yes
Yes
- 757.31 Congenital ectodermal dysplasia
For price inquiries please email zebras@genedx.com
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
References
- Jan et al. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol. 2004 May;122(5):1108-13
- Smith et al. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol. 2002 Mar; 118(3):530-2
- van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol. 2003 Nov;121(5):1035-8
- Lamartine et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet. 2000 Oct;26(2):142-4