PGmax™ - Skeletal Disorders and Joint Problems Panel
Use
This test is designed for individuals who have clinical features or a suspected diagnosis of skeletal disorders or joint problems, as well as for those with a family history of skeletal conditions. It is also suitable for cases with abnormal prenatal ultrasound findings suggestive of skeletal or joint disorders. The panel includes 694 genes known to be associated with a wide array of skeletal and joint issues.
Special Instructions
The panel is available on both Exome and Genome platforms. For Exome Platform, suitable specimen types include blood, DNA, buccal, saliva, and tissue. For Genome Platform, blood and DNA are required. Orders can be expedited with STAT testing. Additional options include prenatal testing and exome-wide CNV analysis, which is included by default.
Limitations
The PGmax Skeletal Disorders and Joint Problems Panel may not be able to detect all genetic variations associated with skeletal disorders and joint problems. The ability to interpret the findings highly depends on the quality of the clinical information provided. False positives or negatives are possible, and additional testing or methods may be required to confirm results.
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided