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Prenatal SALL4 Gene Sequencing



Clinical Utility:
  • Full sequencing testing for fetuses with prenatal ultrasound findings suggestive of Duane-Radial Ray Syndrome / Acro-Renal-Ocular Syndrome
  • Mutation-specific testing for fetuses with a family history of a known SALL4 mutation
Lab Method:
Capillary Sequencing


Test Code:
Turnaround Time:
2-3 weeks
Preferred Specimen:
20 mL Amniotic Fluid
Alternative Specimen:
20 mg CVS, 2 T25 flasks of cultured amniocytes, 2 T25 flasks of cultured chorionic villi, Ug DNA Concentration


CPT Codes:
81479x1, 81265x1
New York Approved:
ABN Required:
Billing Information:
View Prenatal Billing Policy
* For ICD9 to ICD10 conversion please follow this link
ICD-9 Codes:
  • 655.23: Hereditary disease in family possibly affecting fetus
  • 655.83: Other known or suspected fetal abnormality, not elsewhere classified
* 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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