Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies
Use
Providing a genetic evaluation for patients with a personal or family history suggestive of osteogenesis imperfecta and other hereditary conditions associated with bone fragility. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for OI and other hereditary conditions associated with bone fragility.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur. Some regions cannot be effectively evaluated due to technical limitations of the assay, including homology, high GC content, and repetitive sequences. This test is validated to detect 95% of deletions up to 75 bp and insertions up to 47 bp. Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria. Single exon resolution might not be achieved in some instances due to sequence coverage or genomic complexity.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0 - Gene dis DNA anl Pnl
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Storage Instructions
Ambient (preferred)/Refrigerated