Spondyloperipheral dysplasia (MIM 271700) is an autosomal dominant disorder caused by mutations in the C-propeptide domain of COL2A1. The phenotype is somewhat variable but patients have platyspondyly and brachydactyly E-like changes (short metacarpals and metatarsals, short distal phalanges in the hands and feet). Additional findings may include shortening of the long bones, kyphosis, lordosis, narrow chest, club feet, midface hypoplasia and cleft palate.read more

Tests Available

By gene: COL2A1
Next Generation Sequencing
Test Code: 1323
Deletion / Duplication
Test Code: 1324
NGS/Del Dup Comprehensive
Test Code: 1659
Sanger Sequencing
Test Code: 1325
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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