Platyspondylic lethal skeletal dysplasia, Torrance type (PLSDT; MIM 151210) is an autosomal dominant disorder caused primarily, if not exclusively, by mutations in the C-propeptide domain of COL2A1. PLSDT is a neonatal short-limbed dwarfism disorder that is usually lethal. Patients typically display macrocephaly, short necks, midface hypoplasia or cleft palate. The thorax is small and narrow and the ribs are short with splayed more

Tests Available

By gene: COL2A1
Next Generation Sequencing
Test Code: 1268
Deletion / Duplication
Test Code: 1269
NGS/Del Dup Comprehensive
Test Code: 1628
Sanger Sequencing
Test Code: 1270
Exons 51, 52, 53 and 54 Only

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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