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PORCN Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PORCN
Disorders:
Clinical Utility:
  • 1. Confirmation of a clinical diagnosis
  • 2. Differentiation between de novo and familial cases
  • 3. Prenatal diagnosis
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 757.31: Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Leoyklang P et al. Clin Genet 2008 Apr; 73(4):373-379
  2. Bornholdt et al., (2009) Hum Mutat 30:E618-E628
  3. Fernandes et al., (2010) Genet Test Mol Biomarkers 14(5):716-720
  4. ADD: Gorlin et al., (2001) Syndromes of the Head and Neck, London, 4th ed. 571-576
  5. Wang X et al. Nat Genet 2007 Jul;39(7):836-8
  6. Grzeschik K-H et al. Nat Genet 2007 Jul;39(7):833-5
  7. Goltz, RW. Arch Dermatol 128:1108-1111, 1992

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