Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, (SSFSC; MIM 617877) is an autosomal dominant condition caused by mutations in the BMP2 gene. Characteristic craniofacial features include midface hypoplasia, a short nose with anteverted nares, long philtrum, and palatal anomalies. Additional craniofacial features may include temporal narrowing, broad forehead, low-set, posteriorly rotated ears, thin upper lip, and dental more

Tests Available

By gene: BMP2
Next Generation Sequencing
Test Code: 2457
Deletion / Duplication
Test Code: 2458
NGS/Del Dup Comprehensive
Test Code: 2459

Test Details

Technical Information
Disease Groups: 
Cardiovascular Disorders
Craniosynostosis and Craniofacial Disorders
Skeletal Dysplasias
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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