Osteogenesis Imperfecta Panel
Use
The Osteogenesis Imperfecta Panel is designed for individuals with relevant clinical features or a suspected diagnosis of osteogenesis imperfecta. It is also appropriate for individuals with a family member suspected of having osteogenesis imperfecta without previous genetic testing or for those lacking specific variant information of a genetically-confirmed affected family member. Additionally, it may be used following abnormal prenatal ultrasound findings suggestive of osteogenesis imperfecta.
Special Instructions
Test is available for both Exome and Genome Platforms and may include exome-wide CNV analysis at an additional cost. STAT testing incurs a 25% surcharge unless delayed beyond 16 days after blood sample submission. Test requisition forms must be completed, and orders can be submitted online or via fax using the specified form.
Limitations
The test has not been cleared or approved by the FDA and follows CAP and CLIA regulations. Performance characteristics were validated by PreventionGenetics LLC. The test is performed at PreventionGenetics and its scope is limited by the selected genes and platforms (Exome or Genome). Potential limitations include incomplete coverage in certain genomic regions and technical sensitivity to detect some variants due to methodological constraints.
New York Approved
Methodology
NGS (CGP)
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
Collection Instructions
Exome Platform: Blood can be used as a specimen. Please follow standard procedures for blood draw and labeling.