Forms and Documents
- Confirmation of a clinical diagnosis
- To distinguish GJB2 disorders from other forms of palmoplantar keratoderma
- Defining the inheritance pattern in the family or individual
- Prenatal diagnosis in families with known mutation(s)
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
- 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
**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.
- Richard et al. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey Syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol, 123(5):856-63, 2004
- Maestrini et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\'s syndrome) in three unrelated families. Hum. Mol. Genet. 8: 1237–1243, 1999
- G. Richard. Connexin Disorders of the Skin. Clinics in Dermatology, 23:23-32, 2005