Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

PLEC1 Select 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
  • Test method:
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
3481
Turnaround Time:
7-8 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. Lepinard et al 2000 Prenat Diagn 20:70-5
  3. Azarian et al 2006 Prenat Diagn 26:57-9.
  4. Koss-Harnes D et. al. 2002 J Invest Dermatol. 118:87-93
  5. Schröder R et. al 2002 J Neuropathol Exp Neurol. 61:520-30
  6. Schara U et. al. 2004 Eur J Pediatr. 163:218-22
  7. Koss- Harnes D et. al. 2004 Acta Derm Venereol. 84:124-31
  8. Takahashi Y et. al. 2005 J Dermatol Sci. 37:87-93
  9. Rezniczek GA et. al. 2003 Hum Mol Genet. 12:3181-94
  10. Mellerio JE et. al. 1997 Br J Dermatol. 137:898-906
  11. Takizawa Y et. al. 1999 J Invest Dermatol. 112:109-12
  12. Kunz M et. al. 2000 J Invest Dermatol. 114:376-80
  13. Bauer JW et. al. 2001 Am J Pathol.158:617- 25
  14. Charlesworth A et. al. 2003 J Invest Dermatol. 121:1344-8
  15. Elliott CE et. al. 1997 Genomics 42:115-25
  16. Gache et al 1998 J Invest Dermatol 111:914-6
  17. Dolan et al 1993. Am J Med Genet 47:395-400
  18. Koss-Harnes D et. al. 1997 Exp Dermatol. 6:41-8
  19. McMillan JR et. al. 2007 Muscle Nerve.35:24-35
  20. Shimizu H et. al. 1999 J Am Acad Dermatol. 41:950-6
  21. Shimizu H et. al 1999 Arch Dermatol Res. 291:531-7
  22. Dang M et. al 1998. Lab Invest. 78:195-204
  23. Chavanas S et. al. 1996 J Clin Invest. 98:2196-200
  24. Pulkkinen L, et. al. 1996 Hum Mol Genet. 5:1539-46
  25. Smith FJ et. al. 1996 Nat Genet.13:450-7
  26. Pfendner E, Uitto J. 2005 J Invest Dermatol. 124:111-5
  27. Rouan F et. al.2000 J Invest Dermatol. 114:381-7
  28. McLean WH et. al..1996 Genes Dev.10:1724-35
  29. Nakamura H et. al. 2005 J Mol Diagn.7:28-35
  30. Sawamura D et. al 2007 J Invest Dermatol. 127:1537-40

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