Parent testing
A guide to ordering genetic testing on parents of babies who screen positive through BRIDGES-NBS.
Targeted genetic testing of parents is not part of the BRIDGES-NBS research study, but it can be clinically important for confirming a diagnosis and guiding care. Because of this, it is offered at no cost for families participating in BRIDGES-NBS.
The parent's healthcare provider or the baby's provider will need to order testing for the parent(s). Testing is completed on parents’ DNA from a cheek swab, collected using a buccal kit from GeneDx (the clinical laboratory conducting genome sequencing for babies participating in BRIDGES-NBS).
Please note, testing of siblings is not offered as part of BRIDGES-NBS. If needed, this testing may be coordinated through a local genetics or primary care office.
Genetic testing for the parents of a baby may be offered to help confirm a diagnosis and clarify inheritance.
Reasons for testing may include:
Autosomal recessive conditions: If a baby has two different variants in a gene, testing both parents shows whether one variant came from each parent, or whether both variants came from a single parent. If each parent has one variant, and both were passed on to the baby, the baby is at increased risk for the genetic condition. If one parent has both variants, then that parent and the baby are considered carriers of the condition and are not expected to be at increased risk of developing the condition.
Autosomal dominant conditions: Testing a parent can show whether the parent has the same variant. If so, the parent may also be at risk of developing the genetic condition themselves, or may already have symptoms that have not yet been recognized. Learning more about that parent's medical history may also help clarify the baby's likelihood of developing the condition.
How to order targeted genetic testing for parents
Healthcare providers can order testing and buccal kits directly from GeneDx through the GeneDx Provider Portal, or by emailing GenomicsNBS@genedx.com.
Test code 9011 covers parental testing at no cost.
If further support is needed in coordinating parental testing, please refer the family to a local genetics clinic for a clinical genetics/genetic counseling visit.