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
$900
Test Code: 1323
Deletion / Duplication
$900
Test Code: 1324
NGS/Del Dup Comprehensive
$1,100
Test Code: 1659
Sanger Sequencing
$410
Test Code: 1325
Exons 51, 52, 53 and 54 Only

Related Panels
Stickler syndrome NGS panel (8 genes)
NGS $1,100
Del Dup $990
Comp $1,250
Skeletal dysplasia core NGS panel (10 genes)
NGS $1,100
Del Dup $990
Comp $1,300
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,300
Del Dup $990
Comp $1,500

Test Details

Technical Information
Genes: 
COL2A1
Disease Groups: 
Skeletal Dysplasias
MIM: 
271700
Billing
Price: 
$900
CPT Codes: 
81479 x 1
Ordering
SKU:
1323
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: 4 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: 4 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)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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