Forms and Documents
Test Details
- Acral Peeling Skin Syndrome
- Dystrophic Epidermolysis Bullosa (DEB)
- Epidermolysis Bullosa (EB)
- Epidermolysis Bullosa Dystrophica
- Epidermolysis Bullosa Simplex
- Epidermolysis Bullosa, Junctional Type
- Epidermolysis Bullosa, Junctional with Muscular Dystrophy
- Epidermolysis Bullosa, Junctional with Pyloric Atresia
- Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)
- Herlitz Junctional Epidermolysis Bullosa
- Mitis Junctional Epidermolysis Bullosa
- Non-Herlitz Junctional Epidermolysis Bullosa
- Identification of the specific molecular basis of a hereditary blistering disorder
- Genetic counseling and recurrence risk assessment
- Preparation for prenatal testing in future pregnancies
If an affected individual is found by XomeDxSlice-EB to have only a single mutation in a gene with recessive inheritance, deletion/duplication analysis of that gene can be performed at no additional cost.
Patient samples sent for XomeDxSlice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.
- Next-Gen Sequencing
Ordering
Billing
References
- Varki et al., 2006 J Med Genet 43:641-52
- Varki et al., 2007 J Med Genet. 44:181-92
- Schumann et al., 2013 Br J Dermatol. Mar 18
- Charlesworth et al., 2013 Br J Dermatol. 168:808-814
- Yang et al., 2012 PediatrDermatol. 29:725-31
- Has et al., 2012 N Engl J Med. 366:1508-14
- Liu et al., 2012 J Invest Dermatol. 132:742-4
- Smith 2012 Br J Dermatol. 166:894-6
- Has et al., 2011 Hum Mutat. 32:1204-12
- Murase et al., 2011Acta DermVenereol. 91:730-1
- Uitto J. 2011 ActaDermVenereol. 91:259-61
- Almaani et al., 2011 ActaDermVenereol. 91:262-6
- Kiritsi et al., 2011 J Med Genet. 48:450-7
- Techanukul et al., 2011 ActaDermVenereol. 91:267-70
- Pigors et al., 2011 Hum Mol Genet. 20:1811-9
- Natsuga et al., 2010 Hum Mutat. 31:1687-98
- Hobbs et al., 2010 J Invest Dermatol. 130:2680-3
- Fine et al., 2008 J Am AcadDermatol. 58:931-50
- Intong et al., 2012 ClinDermatol. 30:70-7
- Sprecher E. 2010 DermatolClin. 2028:23-32
- Rezniczek et al., 2010 DermatolClin. 28:33-41, A series of review articles in DermatolClin. 2010 Jan;28
- Dang et al., 2008 ExpDermatol. 17:553-68
- Pfendner EG, Lucky AW Junctional Epidermolysis Bullosa. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews
- Seattle (WA): University of Washington, Seattle; 1993-2008, Pfendner EG, Lucky AW: Dystrophic Epidermolysis Bullosa (November 2010) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online] Copyright, University of Washington,
- Pfendner EG & Lucky AW: Epidermolysis Bullosa with Pyloric Atresia (February 2013) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.gene