Bone Fragility and Fracture Panel
Use
This test is designed for individuals with relevant clinical features such as bone fragility disorders. It aids in the differential diagnosis of bone fractures and is applicable for individuals with a family member who is presumed to have a bone fragility disorder but has not undergone genetic testing. It is also suitable for cases where the specific variant information is unavailable for a family member with a genetically confirmed bone fragility disorder, as well as in cases with abnormal prenatal ultrasound findings suggestive of bone fragility or fractures.
Special Instructions
The test can be ordered with options for STAT testing, which provides expedited processing for an additional surcharge. A completed online order or paper test requisition form, along with labeled specimens, is required to initiate testing. Testing must be ordered by a qualified healthcare provider, and informed consent must be obtained from the patient and their family, if applicable.
Limitations
The test utilizes Next-Generation Sequencing (NGS) platforms and includes CNV analysis, and although highly effective, it may not detect all possible genetic changes associated with bone fragility disorders. Results interpretation requires detailed clinical information, and the ability to interpret variants depends on the quality of clinical data provided. Due to the nature of genetic testing, false negatives or false positives may occasionally occur, and further confirmatory tests or genetic counseling may be recommended based on the results.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided