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Test Code 10213

Spondylocostal Dysostosis Panel

6 genes

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Spondylocostal Dysostosis
  • Individuals with vertebral segmentation defects identified on fetal ultrasound as early as 13 weeks gestation
  • Individuals from Puerto Rican families with suspected MESP2-related Spondylocostal Dysostosis
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
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