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EFNB1 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
EFNB1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Risk assessment
  • Prenatal diagnosis in families with a known mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
3251
Turnaround Time:
4-6 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:
  • 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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REFERENCES

  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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