Diaphanospondylodysostosis (MIM 608022) is usually a perinatal lethal, autosomal recessive disorder caused by mutations in the gene encoding bone morphogenic protein-binding endothelial regulator protein (BMPER). The primary skeletal findings include vertebral segmentation defects with delayed ossification of pedicles, unossified vertebral bodies below the T12 level, thoracic hypoplasia, posterior rib gaps, missing ribs and enlarged fontanelles.read more

Tests Available

By gene: BMPER
Next Generation Sequencing
Test Code: 1115
Deletion / Duplication
Test Code: 1525
NGS/Del Dup Comprehensive
Test Code: 1526

Test Details

Technical Information
Disease Groups: 
Kidney Disorders
Skeletal Dysplasias
CPT Codes: 
81479 x 1
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: 2 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: 2 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)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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