Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

ZIC2 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ZIC2
Clinical Utility:
  • Confirmation of clinical diagnosis
  • Identification of the specific gene defect(s) to allow
  • Identification of non-expressing mutation carriers in families with an affected member
  • Prenatal diagnosis for the specific mutation in the family
  • Prenatal diagnosis in a fetus based on ultrasound findings suggestive of holoprosencephaly
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
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Wallis et al., (2000) Human Mutat 16:99-108
  2. Dubourg et al., (2004) Hum Mutat 24: 43-51
  3. Bendavid et al., (2005) Hum Genet 119: 1-8
  4. Bendavid et al., (2006) J Med Genet 43: 496-500
  5. Dubourg et al., (2007) Orphan J Rare Dis 2:8
  6. El-Jaik et al., (2007) Mol Genet Metab 90:97-111
  7. Bendavid et al., (2009) Hum Mutat 30: 1175-1182
  8. Lacbawan et al., (2009) J Med Genet 46:389-98
  9. Roessler et al., (2009) Hum Mutat 10:921- 993
  10. Solomon et al., (2009) J Med Genet 47:513-24
  11. Muenke, M. and Gropman, A. Holoprosencephaly Overview, www.genereviews.org. (2010)
  12. Muenke et al., (2010) Am J Med Genet 154C: 52-61
  13. Paulussen et al., (2010) Eur J Hum Genet 18: 999-1005
  14. Solomon et al., (2010) Am J Med Genet 154C: 133-141

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