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
$680
Test Code: 1269
NGS/Del Dup Comprehensive
$1,570
Test Code: 1628
Sanger Sequencing
Option 1: Exons 51, 52, 53 and 54 only
$410
Test Code: 1270
Sanger Sequencing
Option 2: Reflex to remaining exons
$850
Test Code: 1271

Related Panels
Skeletal dysplasia core NGS panel (10 genes)
NGS $1,390
Del Dup $990
Comp $2,230
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,840
Del Dup $1,300
Comp $2,990
Stickler syndrome NGS panel (7 genes)
NGS $1,370
Del Dup $990
Comp $2,210

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 3 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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