Shprintzen-Goldberg craniosynostosis syndrome (SGS; MIM 182212) is an autosomal dominant disorder caused by mutations in the SKI gene. SGS displays considerable phenotypic overlap with Marfan syndrome (MFS; MIM 154700) and Loeys-Dietz syndrome (LDS; MIM 609192, 610168, 613795 & 614816) with the additional findings of intellectual disability, infantile muscular hypotonia, and more

Tests Available

By gene: SKI
Next Generation Sequencing
Test Code: 1302
Deletion / Duplication
Test Code: 1303
NGS/Del Dup Comprehensive
Test Code: 1643

Test Details

Technical Information
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Craniosynostosis and Craniofacial Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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