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Test Code 10347

Short Rib Skeletal Dysplasia Panel

19 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 short rib skeletal dysplasia
  • Individuals who have a family member with presumed short rib skeletal dysplasia without previous genetic testing
  • Individuals without access to the specific variant information for a family member who has genetically-confirmed short rib skeletal dysplasia
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
for pricing.

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