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

SHH Del/Dup



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


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:
  • 742.2: Reduction deformities of brain Absence of part of brain, Agenesis of part of brain, Agyria Aplasia of part of brain, Arhinencephaly, Holoprosencephaly, Hypoplasia of part of brain Microgyria
* For price inquiries please email


  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, (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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