Polydactyly and Syndactyly Panel
Use
This test is designed for individuals with a clinical or suspected diagnosis of polydactyly or syndactyly, including those with suspected syndromic forms that require evaluation of multiple associated genes. It is also suitable for individuals with abnormal prenatal ultrasound findings suggestive of these conditions. The panel can aid in confirming a diagnosis and informing clinical management for patients with these limb malformations.
Special Instructions
Clinical or suspected diagnosis of polydactyly or syndactyly; suspected syndromic forms requiring multiple gene evaluation; abnormal prenatal ultrasound findings.
Limitations
The test may not detect all genetic variations associated with polydactyly or syndactyly. Variants of unknown significance may be identified. Certain regions might have suboptimal coverage, impacting the ability to detect mutations in those areas. CNV detection is platform-dependent and may not be available for all cases.
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