GeneDx is a rapidly growing CAP and CLIA certified diagnostic genetic testing laboratory for molecular genetics. Our historic mission has been to make clinical diagnostic testing available for people with genetic conditions and their families. We apply cutting edge technologies that provide a wide array of molecular genetic diagnostic tests, including whole exome sequencing and next-generation sequencing panels. We specialize in genetic testing for rare hereditary disorders, but also test for common disorders. To learn more about GeneDx, please visit our website at www.genedx.com.

Role: The GeneDx Sr. Clinical Scientist performs an independent role in identifying, researching, and interpreting sequencing variants for the purpose of diagnosing genetic disease, using manual and automated methods in a team environment, following established policies and procedures in a professional manner.

Essential Duties:

• Works with a team of molecular, clinical, cytogenetic and biochemical geneticists, genetic counselors, and bioinformaticians
• Identifies, researches and interprets sequencing variants
• Assesses clinical relevance
• Establishes phenotype-genotype links
• Reviews a large spectrum of genetic disorders
• Reviews and signs-out detailed clinical test reports
• Communicates with referring physicians