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 craniosynostosis.read more
Tests Available
By gene: SKI
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Next Generation Sequencing
$900
Test Code: 1302
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Deletion / Duplication
$900
Test Code: 1303
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1643
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Test Details
Technical Information
Genes:
SKI
Disease Groups:
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Craniosynostosis and Craniofacial Disorders
MIM:
182212
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1302 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.