Valley’s pediatric genetic counseling services, offered in partnership with Mount Sinai Kravis Children’s Hospital, provides individualized genetic counseling and testing to children who are experiencing a genetic medical condition or have familial history of a genetic condition.
Our team guides you through the entire genetic testing journey, assisting in the coordination of the patient’s genetic testing and offering in-person consultation before and after genetic testing has been completed.
Pediatric Genetic Services
The goal of genetic counseling is to guide families through their genetic testing journey, interpret results, and clearly explain any implications so every family can make informed decisions with confidence. A genetic counselor will conduct an evaluation in a private session, consisting of in-depth discussions of personal and familial medical histories. The information gathered will help personalize the patient’s genetic testing opportunity.
Valley’s pediatric genetic counselors can offer patient education and explore genetic testing opportunities for a range of genetic conditions that are commonly noticed during childhood, including:
- Family history of genetic disease or heritable condition
- Chromosomal disorders, including Down syndrome and sex chromosome differences
- Birth defect, also known as congenital anomalies: Physical or functional differences in a baby’s body that are noted noted at birth, such as cleft lip, heart defects, or clubfoot
- Autism spectrum disorder (ASD) and other developmental disorders
- Abnormal genetic test results
- Disorders affecting stature: Conditions that significantly affect an individual’s height above or below the typically expected range
Types of Genetic Testing Offered
Two different types of large-scale genomic tests can be used to help detect underlying genetic conditions. They include:
Whole Genome Sequencing (WGS): The most comprehensive genetic testing currently available, which sequences almost all of the DNA. This includes coding DNA (the DNA that is used as instructions in the body to grow and develop) as well as non-coding DNA (the DNA that is in the space between the coding sections). Simply put, this testing looks at the spelling of DNA that tells the body how to grow, develop, and function, as well as the space in between.
Whole Exome Sequencing (WES): A comprehensive genetic testing that sequences the coding regions of DNA. More simply, this testing looks at the spelling of the part of the DNA that tells the body how to grow, develop, and function.
Meet Our Team
Rose Bishop, MGC, LCGC
Pediatric Genetic Counselor
Rose is a genetic counselor specializing in pediatric genetic conditions. She has genetic counseling experience working with inpatients in the Neonatal Intensive Care Unit (NICU) and pediatric units at The Valley Hospital, as well as outpatients through the Kireker Center for Child Development.
Rose completed her training at the University of Nebraska Medical Center and is board certified by the American Board of Genetic Counselors. With extensive experience counseling families with multi-generational genetic conditions, she is passionate about increasing awareness of, and expanding access to, genetic testing for overall positive health outcomes.