Invitae Osteogenesis Imperfecta and Bone Fragility Panel
Use
The Invitae Osteogenesis Imperfecta and Bone Fragility Panel analyzes genes associated with bone fragility disorders such as osteogenesis imperfecta, osteopetrosis, and rickets. Genetic heterogeneity of these conditions complicates diagnosis based solely on phenotype, thus broad panel testing is efficient for evaluating multiple genes under a single indication. Confirming a diagnosis through genetic testing aids in guiding treatment, management, risk assessment, and genetic counseling. Additional unrelated disorders associated with some genes in the panel are not included in the list of disorders tested.
Special Instructions
Customize this test by removing genes; consult Invitae for specific non-covered regions/variants. Contact client services for questions regarding specific gene analysis or limitations.
Limitations
The test uses full-gene sequencing and deletion/duplication analysis with NGS technology. It covers coding exons and nearby intronic regions but may not detect structural rearrangements, variants in complex sequences, or fully resolve mosaicism, phasing, or mapping ambiguities. Non-coding variants are selectively analyzed. Single-exon CNV events may be missed due to sequence properties or low-quality data. This is crucial for analyzing extracted genomic DNA from whole blood, and anomalies caused by recent blood transfusion or bone marrow transplant might not reflect the constitutional genome.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)