LRP5 related high bone density phenotypes - Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus or endosteal hyperostosis (MIM 144750) is an autosomal dominant disorder caused by mutations in the LDL receptor-related protein 5 (LRP5) gene. The main findings include cortical thickening of the long bones and progressive enlargement of the mandible with decreased gonial angle and the development of torus more

Tests Available

By gene: LRP5
Next Generation Sequencing
Test Code: 1369
Deletion / Duplication
Test Code: 1370
NGS/Del Dup Comprehensive
Test Code: 1683

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Test Details

Technical Information
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
CPT Codes: 
81406 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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