Severe Skeletal Conditions Panel
Use
The Severe Skeletal Conditions Panel is designed for individuals with clinical or suspected diagnoses of severe skeletal conditions, as well as those with abnormal skeletal findings on ultrasound or X-ray imaging. This genetic test aids in confirming a diagnosis by identifying pathogenic variants across a broad spectrum of skeletal disorders, enabling precise management and prognosis estimation.
Special Instructions
The test can be ordered via standard institutional pricing through the myPrevent platform. Options such as STAT testing and exome-wide CNV analysis are available for additional fees. Institutional billing is supported, and it's essential to include detailed clinical information for accurate variant interpretation.
Limitations
Interpretation of variants is fundamentally dependent on the quality of the clinical information provided. The panel might not detect all pathogenic variants associated with skeletal conditions, especially those in non-coding regions or resulting from complex structural rearrangements. Technical limitations of NGS might contribute to false negatives in regions with low coverage.
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