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
Next Generation Sequencing
$900
Test Code: 1596
Deletion / Duplication
$900
Test Code: 1597
NGS/Del Dup Comprehensive
$1,100
Test Code: 1598

Related Panels
Skeletal dysplasia core NGS panel (10 genes)
NGS $1,100
Del Dup $990
Comp $1,300

Test Details

Technical Information
Genes: 
INPPL1
Disease Groups: 
Skeletal Dysplasias
MIM: 
258480
Billing
Price: 
$900
CPT Codes: 
81479 x 1
Ordering
SKU:
1596
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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