Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

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

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