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Epidermolysis Bullosa Dystrophica

NOW AVAILABLE! XomeDxSlice – EB Using whole exome capture and sequencing, ALL of the known genes for the various forms of Epidermolysis Bullosa (Dystrophica, Simplex, Junctional) can be analyzed at one time, achieving substantial savings in both cost and time, with little loss of sensitivity. In most cases, this should now be the test of first [...]

+ Mutation-specific testing   + Prenatal testing

NOW AVAILABLE! XomeDxSlice – EB

Using whole exome capture and sequencing, ALL of the known genes for the various forms of Epidermolysis Bullosa (Dystrophica, Simplex, Junctional) can be analyzed at one time, achieving substantial savings in both cost and time, with little loss of sensitivity. In most cases, this should now be the test of first choice for a new patient with the diagnosis of Epidermolysis Bullosa.

In this clinical type of EB, blistering usually begins in the neonatal period and may continue throughout life or may be transient (transient bullous dermolysis of the newborn). Blisters may be generalized and include oral and esophageal lesions in the severest form (Hallopeau-Siemens) or may be localized to the elbows and knees, and/or hands and feet in the milder forms. In addition, dystrophic nails are also often present. Dystrophic EB is not usually lethal but in the severest cases infants may succumb to infection or other complications. The lifetime risk of squamous cell carcinoma in patients with the Hallopeau-Siemens form is over 90%. In affected individuals the tissue separation (blister) occurs below the lamina densa. Anchoring fibrils may be reduced or absent. Collagen VII staining may be reduced or absent in the more severe forms or may appear relatively normal in the milder forms.

+ Mutation-specific testing   + Prenatal testing

Tests Available

XomeDxSlice – EB

FORMS AND DOCUMENTS

TEST DETAILS

Clinical Utility:
  • Identification of the specific molecular basis of a hereditary blistering disorder
  • Recurrence risk assessment
  • Preparation for prenatal testing in future pregnancies
Lab Method:
Next-gen Sequencing

ORDERING

Test Code:
707
Turnaround Time:
10-12 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
List Price:
$3,000.00
Billing Information:
View Billing Policy

REFERENCES

  1. Varki et al., 2006 J Med Genet 43:641-52
  2. Varki et al., 2007 J Med Genet. 44:181-92
  3. Schumann et al., 2013 Br J Dermatol. Mar 18
  4. Charlesworth et al., 2013 Br J Dermatol. 168:808-814
  5. Yang et al., 2012 PediatrDermatol. 29:725-31
  6. Has et al., 2012 N Engl J Med. 366:1508-14
  7. Liu et al., 2012 J Invest Dermatol. 132:742-4
  8. Smith 2012 Br J Dermatol. 166:894-6
  9. Has et al., 2011 Hum Mutat. 32:1204-12
  10. Murase et al., 2011Acta DermVenereol. 91:730-1
  11. Uitto J. 2011 ActaDermVenereol. 91:259-61
  12. Almaani et al., 2011 ActaDermVenereol. 91:262-6
  13. Kiritsi et al., 2011 J Med Genet. 48:450-7
  14. Techanukul et al., 2011 ActaDermVenereol. 91:267-70
  15. Pigors et al., 2011 Hum Mol Genet. 20:1811-9
  16. Natsuga et al., 2010 Hum Mutat. 31:1687-98
  17. Hobbs et al., 2010 J Invest Dermatol. 130:2680-3
  18. Fine et al., 2008 J Am AcadDermatol. 58:931-50
  19. Intong et al., 2012 ClinDermatol. 30:70-7
  20. Sprecher E. 2010 DermatolClin. 2028:23-32
  21. Rezniczek et al., 2010 DermatolClin. 28:33-41, A series of review articles in DermatolClin. 2010 Jan;28
  22. Dang et al., 2008 ExpDermatol. 17:553-68
  23. Pfendner EG, Lucky AW Junctional Epidermolysis Bullosa. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews
  24. 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, Seattle, 1997-2010. Available at http://www.genetests.org
  25. 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.genetests.org.

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