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 ends.read more

Tests Available

By gene: COL2A1
Next Generation Sequencing
$990
Test Code: 1268
Deletion / Duplication
$990
Test Code: 1269
NGS/Del Dup Comprehensive
$1,365
Test Code: 1628
Sanger Sequencing
$410
Test Code: 1270
Exons 51, 52, 53 and 54 Only

Related Panels
Skeletal dysplasia core NGS panel (10 genes)
NGS $1,220
Del Dup $990
Comp $1,595
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,620
Del Dup $990
Comp $1,995
Stickler syndrome NGS panel (7 genes)
NGS $1,220
Del Dup $990
Comp $1,595

Test Details

Technical Information
Genes: 
COL2A1
Disease Groups: 
Skeletal Dysplasias
MIM: 
151210
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1268
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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