Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing

Casandra

Casandra Test Code AR61919Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001607CPT Codes 81405, 81406, 81408, 81479

Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing

Also known as: OI NGS

Clinical Use

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Use

This test is used to confirm a clinical diagnosis of osteogenesis imperfecta (OI) or a monogenic cause of low bone density. It is specifically targeted at monogenic forms excluding those related to hypophosphatemic rickets or osteopetrosis. OI is characterized by a range of phenotypes from severe to mild prenatal deformities, including bone fractures, skeletal deformities, and dentinogenesis imperfecta. The genetic mutations that cause OI typically affect the COL1A1 and COL1A2 genes, which make up most cases of OI.

Special Instructions

Counseling and informed consent are recommended for genetic testing. Consent forms are available online and are specifically required for New York patients. Additionally, the test requires submission of the Osteogenesis Imperfecta and Low Bone Density Panel Testing Patient History Form.

Limitations

The test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. It does not detect regulatory region variants, large deletions, duplications, inversions, or deep intronic variants. A negative result does not exclude a monogenic form of OI or low bone density. Moreover, the test does not identify non-coding transcripts, and its analytical sensitivity may be affected by pseudogenes and repetitive or homologous regions. Technical limitations may prevent detection of low-level mosaic or somatic variants, and the test's performance may be influenced by previous allogeneic stem cell transplantation. It also doesn't cover one or more exons of certain genes such as the first exon of LRP5.

Test Details