Spondyloepiphyseal dysplasia tarda, X-linked (SEDT; MIM 313400) is caused by mutations in the TRAPPC2 (Synonyms: SEDL) gene. Thus, it is distinct from COL2A1- related spondyloepiphyseal dysplasias. Onset is typically seen in males between the ages of 10-14 years. Patients have a short trunk, vertebral flattening with a characteristic abnormal accumulation of bone, mild epiphyseal dysplasia of the large joints, precocious arthritis, and ochronosis of intervertebral discs.

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Tests Available

By gene: TRAPPC2
Sanger Sequencing
Test Code: 1318
Deletion / Duplication
Test Code: 1319
NGS/Del Dup Comprehensive
Test Code: 1657

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
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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