Connective Tissue Disease: Osteopetrosis and disorders of increased bone density Panel

Test Information
Test Name Connective Tissue Disease: Osteopetrosis and disorders of increased bone density Panel
Lab (Location) The Hospital for Sick Children
Category Connective Tissue
Subcategory Osteopetrosis and disorders of increased bone density
Gene/Platform/Region List CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFRSF11B, TNFSF11
Test type Gene Panel
Samples Accepted Blood, DNA
Indications Diagnosis Diagnosis, Prenatal
Test Methodology Sequencing
Methodology Notes Exome
Diseases/Conditions Osteopetrosis, increased bone density