Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing
Also known as: OI NGS
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
Not provided.
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.
Methodology
NGS
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1.5 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma, grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant