Adams-Oliver Syndrome Panel
Use
This test is designed for individuals with features indicative of Adams-Oliver syndrome or Scalp-Ear-Nipple syndrome. Additionally, it is suitable for reproductive partners of individuals carrying an autosomal recessive form of these syndromes. The test aids in confirming clinical diagnosis through genetic analysis of relevant genes, providing insights into potential hereditary risks and guiding further clinical management.
Special Instructions
The test offers an Exome or Genome platform option, depending on the specimen used. For effective processing, ensure the proper specimen type is selected based on the available options per platform. STAT testing service is available, reducing the turnaround time to 7-16 days from the standard 2-3 weeks. Orders can be made through myPrevent online or by fax using the provided test requisition form. Additional testing or targeted family testing options can be considered post the initial report review.
Limitations
The test analysis is limited to the 8 genes associated with Adams-Oliver syndrome and related disorders. While the NGS method used is robust, variations outside these genes or undetected structural rearrangements might not be reported. Additionally, the presence of pseudogenes or homologous regions potentially affects the accuracy of certain gene analyses. It is advised to interpret test results in conjunction with other clinical findings and potentially complimentary tests.
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