Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimen. FedEx and UPS will also not operate. We will accept specimen on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

SALL4 Del/Dup



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • To differentiate DRRS/AROS from HOS, TBS, and other radial malformation syndromes
  • Risk assessment
  • Prenatal diagnosis in families with an affected child and 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:
  • 759.89: Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email


  1. Kohlhase, J. et al., Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet. 11:2979-2987, 2002
  2. Borozdin, W. et al., SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. J Med Genet. 41(9):e113, 2004
  3. Al-Baradie R. et al., Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family. Am J Hum Genet. 71:1195-1199, 2002
  4. Kohlhase J. et al., Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet. 40:473-478, 2003
  5. Borozdin, W. et al., Novel mutations in the gene SALL4 provide further evidence for acro-renalocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. J Med Genet.41(8):e102, 2004
  6. Kohlhase, J. et al., SALL4 Mutations in Okihiro syndrome (Duane-Radial Ray Syndrome), Acro-Renal-Ocular Syndrome, and Related Disorders. Hum Mutat. 26:176-183, 2005
  7. Miertus, J. et al., A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. Hum Genet. 119: 154-161, 2006

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