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ITGB4 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ITGB4
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
  • Identification of at risk family members.
  • Carrier testing of unaffected family members.
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
1641
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
List Price:
$4,065.00
Billing Information:
View Billing Policy
ICD Codes:
  • 757.39: Epidermolysis Bullosa

REFERENCES

  1. Salvestrini et al. 2008 J Ped Gastroenterol and Nutrition 47:585-591
  2. Pfendner E, Uitto J. 2005 J Invest Dermatol. 124:111-5
  3. Almaani et al. 2009 Br J Dermatol 160:1094-1097.
  4. Nakamura H et al., 2005 J Mol Diagn.7:28-35
  5. Sawamura D et al., 2007 J Invest Dermatol. 127:1537-40
  6. Ruzzi L, et al., 1997 J Clin Invest 99:2826-31
  7. Inoue et al., 2000 J Invest Dermatol 114:1061-4
  8. Gache et al., 1998 J Invest Dermatol 111:914-6
  9. Lepinard et al., 2000 Prenat Diagn 20:70-5
  10. Dolan et al., 1993. Am J Med Genet 47:395-400
  11. Chavanas et al., 1999 Hum Mol Genet. 8:2097-105
  12. Azarian et al., 2006 Prenat Diagn 26:57-9
  13. Jonkman et al., 2002 J Invest Dermatol 119:1275-81
  14. Iacovacci et al., 2003 Exp Dermatol 12:716-20
  15. Varki et al., 2006 J Med Genet 43:641-52
  16. Ashton et al., 2001 Br J Dermatol. 144:408-14
  17. Mellerio et al., 1998 Br J Dermatol. 139:862-71
  18. Pulkkinen et al., 1998 Am J Patho l152:157-166
  19. Pulkkinen et al., 1998. Am J Hum Genet 63:1376-1387

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