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

EFNB1 Del/Dup



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Risk assessment
  • Prenatal diagnosis in families with a known mutation
Lab Method:
Exon Array CGH


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


CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 756: Anomalies of skull and face, bones; Absence of skull, bones; Acrocephaly; Congenital deformity of forehead; Craniosynostosis; Crouzon's disease; Hypertelorism; Imperfect fusion of skull; Oxycephaly; Platybasia; Premature closure of cranial sutures; Tower skull Trigonocephaly Excludes: acrocephalosyndactyly [Apert's syndrome] (755.55) dentofacial anomalies (524.0-524.9) skull defects associated with brain anomalies, such as: anencephalus (740.0) encephalocele (742.0) hydrocephalus (742.3) microcephalus (742.1)
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  1. Wieland, I. et al. Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome. Am J Hum Genet. 74:1209-1215, 2004.
  2. Twigg, S. et al. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. PNAS. 101:8652-8657, 2004.
  3. Wieland, I. et al. Dissecting the molecular mechanism in craniofrontonasal syndrome: differential mRNA expression of mutant EFBN1 and the cellular mosaic. Eur J Hum Genet. 16: 184-191, 2008.
  4. Twigg, S. et al. The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males. Am J Hum Genet. 78:999- 1010, 2006.
  5. Wieland, I. et al. Twenty-Six Novel EFNB1 Mutations in Familial and Sporadic Craniofrontonasal Syndrome (CFNS) Hum. Mutat. 26:113-118, 2005.
  6. Wieland, I. et al. Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. Clin Genet. 72:506-516, 2007.

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