Spondyloenchondrodysplasia with immune dysregulation (SPENCDI; MIM 607944) is an autosomal recessive disorder characterized by short stature, progressive metaphyseal irregularities, most often involving the long bones at the wrists and knees, which eventually resemble enchondromas, platyspondyly with vertebral endplate irregularities, intracranial calcifications and spasticity.  These skeletal findings are frequently associated with various autoimmuneread more

Tests Available

By gene: ACP5
Sanger Sequencing
Test Code: 1829
Deletion / Duplication
Test Code: 1830
NGS/Del Dup Comprehensive
Test Code: 1831

Test Details

Technical Information
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 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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