GeneAware™ Expanded Panel (Male)
Use
GeneAware™ is a reproductive carrier screening test provided by Baylor Genetics. It is designed to identify carrier status for numerous hereditary genetic disorders that could result from pathogenic or likely pathogenic variants. This assessment aims to help individuals understand potential risks associated with having children with genetic conditions, focusing on disorders that have severe implications early in a child's life or those that can be treated if diagnosed promptly. Conducting this screening is crucial for couples starting or expanding their family, as it provides valuable information regarding the probability of having affected offspring, underlining the importance of understanding autosomal recessive inheritance patterns.
Special Instructions
This panel includes a reflex testing component, wherein if the CFTR R117H variant is detected, additional testing of specific polythymidine variations within the CFTR gene will also be performed. It is recommended that certain samples, such as buccal swabs, be collected by healthcare professionals to ensure the quality of the specimen. Proper shipping instructions should be followed, ensuring samples arrive at the lab within the designated time frame and are not subjected to extreme temperatures.
Limitations
Negative results from the GeneAware™ screening do not eliminate the risk of having an affected child, but they significantly reduce it. The test only assesses variants within the selected genes and may not capture all possible genetic disorders. It is essential for individuals to understand that carrier screening's results are part of a broader context that is influenced by family history and other factors. Results should be interpreted in conjunction with genetic counseling when necessary.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
at least 10cc
Minimum Volume
at least 10cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Storage Instructions
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
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