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 palatinus.read more

Tests Available

By gene: LRP5
Next Generation Sequencing
$990
Test Code: 1369
Deletion / Duplication
$990
Test Code: 1370
NGS/Del Dup Comprehensive
$1,365
Test Code: 1683

Related Panels
Osteopetrosis NGS panel (14 genes)
NGS $1,420
Del Dup $990
Comp $1,795

Test Details

Technical Information
Genes: 
LRP5
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
MIM: 
607636
Billing
Price: 
$990
CPT Codes: 
81406 x 1
Ordering
SKU:
1369
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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search