Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

PLEC1 Remaining Exons Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PLEC1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
3482
Turnaround Time:
9-10 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 757.39: Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Pfendner E et.al. 2005 Exp Dermatol. 14:241-9
  2. Mellerio JE et. al. 1997 Br J Dermatol. 137:898-906
  3. Kunz M et. al. 2000 J Invest Dermatol. 114:376-80
  4. Bauer JW et. al. 2001 Am J Pathol.158:617- 25
  5. Charlesworth A et. al. 2003 J Invest Dermatol. 121:1344-8
  6. Rezniczek GA et. al. 2003 Hum Mol Genet. 12:3181-94
  7. Elliott CE et. al. 1997 Genomics 42:115-25
  8. Gache et al 1998 J Invest Dermatol 111:914-6
  9. Dolan et al 1993. Am J Med Genet 47:395-400
  10. Lepinard et al 2000 Prenat Diagn 20:70-5
  11. Azarian et al 2006 Prenat Diagn 26:57-9
  12. Koss-Harnes D et. al. 2002 J Invest Dermatol. 118:87-93
  13. Koss-Harnes D et. al. 1997 Exp Dermatol. 6:41-8
  14. McMillan JR et. al. 2007 Muscle Nerve.35:24-35
  15. Takahashi Y et. al. 2005 J Dermatol Sci. 37:87-93
  16. Koss- Harnes D et. al. 2004 Acta Derm Venereol. 84:124-31
  17. Schröder R et. al 2002 J Neuropathol Exp Neurol. 61:520-30
  18. Schara U et. al. 2004 Eur J Pediatr. 163:218-22
  19. Shimizu H et. al. 1999 J Am Acad Dermatol. 41:950-6
  20. Takizawa Y et. al. 1999 J Invest Dermatol. 112:109-12
  21. Dang M et. al 1998. Lab Invest. 78:195-204
  22. Pulkkinen L, et. al. 1996 Hum Mol Genet. 5:1539-46
  23. Smith FJ et. al. 1996 Nat Genet.13:450-7
  24. McLean WH et. al..1996 Genes Dev.10:1724-35
  25. Pfendner E, Uitto J. 2005 J Invest Dermatol. 124:111-5
  26. Rouan F et. al.2000 J Invest Dermatol. 114:381-7
  27. Nakamura H et. al. 2005 J Mol Diagn.7:28-35
  28. Sawamura D et. al 2007 J Invest Dermatol. 127:1537-40
  29. Chavanas S et. al. 1996 J Clin Invest. 98:2196-200
  30. Shimizu H et. al 1999 Arch Dermatol Res. 291:531-7

Back To Top