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ELN Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ELN
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Presymptomatic testing to identify individuals at risk for SVAS
  • Targeted testing of family members for a known familial mutation
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
401
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Cardiology Billing Policy
ICD Codes:
  • 315.3: Developmental speech or language disorder
  • 759.8: Other specified anomalies
  • 315.9: Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Duba, H-C et al., Eur J Hum Genet (2002) 10, 351-361
  2. Graul-Neumann, LM et al., Am J Med Genet A. (2008) Apr 15;146A(8):977-983.
  3. Metcalfe, K et al., Eur J Hum Genet(2000); 8: 955-963.
  4. Tassabehji M et al., Hum Mol Genet (1998);7:1021–1028.
  5. Urban, Z et al., J Invest Dermatol (2005);124:1193–1199.
  6. Zhang, MC et al., J Biol Chem. (1999); 274: 981–986.
  7. Morris & Mervis, Hum Genet (2000) 1:461-484.

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