Bent bone dysplasia syndrome (BBDS; MIM 614592) is an autosomal dominant perinatal lethal skeletal dysplasia caused by mutations in the FGFR2 more

Tests Available

By gene: FGFR2
Next Generation Sequencing
: Full gene
Test Code: 1909
Deletion / Duplication
Test Code: 1910
NGS/Del Dup Comprehensive
Test Code: 1911
Sanger Sequencing
Option 1: FGFR2 Exon 11b only
Test Code: 1054
Sanger Sequencing
Option 2: Reflex to remaining FGFR2 exons
Test Code: 1055

Related Panels
Craniosynostosis NGS panel (25 genes)
NGS $1,800
Del Dup $1,300
Comp $2,950

Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Test Option: 
Full gene
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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