Skeletal Disorders Panel Test code: 89100 • 358 genes

Skeletal Disorders Panel

This panel analyzes genes associated with inherited conditions affecting the skeletal system, including disorders characterized by abnormal development, structure, or growth of bones and cartilage.

Skeletal disorders can be highly genetically heterogeneous, meaning that similar physical and clinical features may be caused by variants in different genes. As a result, an individual's phenotype alone may not always be sufficient to identify the underlying genetic cause.

Broad panel testing allows for an efficient evaluation of multiple potential genes based on a single clinical indication and may help distinguish between different inherited skeletal disorders with overlapping clinical features.

Genetic testing may provide valuable information by helping to:

• Identify an underlying genetic cause
• Confirm or clarify a suspected diagnosis
• Distinguish between different skeletal disorders
• Guide medical management and treatment planning
• Support appropriate monitoring and surveillance
• Provide information regarding potential disease-related risks
• Inform genetic counseling and family planning
• Identify potentially affected relatives who may benefit from genetic testing

Some genes included in this panel may also be associated with non-skeletal medical conditions. These additional conditions are not included among the disorders specifically evaluated by this test.

Genetic test results should be interpreted alongside the individual's medical history, physical examination, skeletal imaging, family history, and other clinical findings to support an appropriate diagnosis and management plan.