Osteogenesis Imperfecta Genetic Panel
Also known as: Juvenile Primary Osteoporosis, OI
Use
Diagnostic testing
Special Instructions
Not provided.
Limitations
This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples or erroneous representation of family relationships. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51969-4 - Gene analysis narr rpt Doc
- 51969-4 - Gene analysis narr rpt Doc
- 50397-9 - Mol dx interp Bld/T Ql
- 8251-1 - Service Cmnt-Imp
- 80563-0 - Report
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Whole blood: standard phlebotomy
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | do not freeze |
Other tests from different labs that may be relevant