GeneAware™ Expanded Panel (Female)

Casandra

Casandra Test Code BA95997Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 64000CPT Codes 81243, 81242, 81290, 81252, 81251, 81330, 81254, 81205, 81209, 81255, 81332, 81250, 81200, 81220, 81260

GeneAware™ Expanded Panel (Female)

Clinical Use

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Use

GeneAware™ is a reproductive carrier screen from Baylor Genetics. It assesses carrier status for many hereditary genetic disorders caused by pathogenic/likely pathogenic variants. Disorders included in this panel focus on diseases with significant impacts during a child's early life or conditions that may be treatable if detected early. This panel is incorporated for individuals who are starting or expanding their families, as it helps identify potential risks of having a child with genetic conditions. While a negative carrier screening result does not rule out the risk of having an affected child, it indicates a significantly reduced risk. Understanding the inheritance patterns assists in risk evaluation for couples considering children.

Special Instructions

Testing includes multiple modes of inheritance such as autosomal recessive and X-linked. This comprehensive panel consists of 421 disorders, delivering important carrier status information that can influence reproductive decisions. The test is conducted using next-generation sequencing technology, which facilitates the efficient analysis of numerous genetic variants. Reflex testing protocols are in place for specific findings to ensure comprehensive assessment and diagnosis, which may involve additional testing if certain variants are detected in the initial analysis.

Limitations

The GeneAware™ panel tests for numerous hereditary genetic disorders, but a negative result does not completely exclude the possibility of having a child with a genetic disease. Furthermore, the results may not encompass every possible genetic variant related to the conditions tested. Variants in genes which influence genetic diseases might not be detectable with standard testing methods. Variations in the region or specific pathogenic variants may require additional testing or reflex testing for confirmation. It remains essential to consider a detailed family history and consult healthcare professionals for comprehensive genetic counseling.

Test Details

New York Approved