Steel syndrome (STLS; MIM 615155) is an autosomal recessive osteochondrodysplasia. The main clinical findings are bilateral hip and radial head dislocations, short stature, characteristic facies, fusion of carpal bones, scoliosis, pes cavus, and cervical spine anomalies. Thus far all patients have been of Puerto Rican ancestry with an identical homozygous missense mutation in the COL27A1 gene, more

Tests Available

By gene: COL27A1
Next Generation Sequencing
Test Code: 2430
Deletion / Duplication
Test Code: 2431
NGS/Del Dup Comprehensive
Test Code: 2432

Test Details

Technical Information
Disease Groups: 
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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