Adams-Oliver Syndrome Panel

Casandra

Casandra Test Code PG78721Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 13027CPT Code 81479

Adams-Oliver Syndrome Panel

Clinical Use

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.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

The NGS with CNV component of the Adams-Oliver Syndrome Panel analyzes 8 genes using comprehensive genomic profiling to detect exonic regions and copy number variations. The platform used can be either Exome or Genome based, depending on the specimen type chosen.

NGS with CNV • CGP