Opsismodysplasia (OPSMD; MIM 258480) is an autosomal recessive chondrodysplasia caused by mutations in the inositol polyphosphate phosphatase-like 1 gene (INPPL1).  It is generally non-lethal, and is characterized by severe delay in skeletal ossification, short limbs, small hands and feet, severe platyspondyly with hypoplastic vertebral bodies, metaphyseal cupping, squared iliac bones, horizontal acetabular roofs, hypoplastic ischia and pubis.read more

Tests Available

By gene: INPPL1
Sanger Sequencing
$950
Test Code: 2301
Deletion / Duplication
$680
Test Code: 2302
Sanger/Del Dup Comprehensive
$1,530
Test Code: 2303

Test Details

Technical Information
Genes: 
INPPL1
Disease Groups: 
Skeletal Dysplasias
MIM: 
269250
Billing
Price: 
$950
CPT Codes: 
81479 x 1
Ordering
SKU:
2301
Turnaround Time: 
Typically 1 to 2 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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