Dr. Samantha Schilit is an ABMGG-certified laboratory geneticist and Laboratory Director at Labcorp (formerly Invitae). She provides clinical interpretation and sign-out of genetic test results across multiple clinical areas including women’s health, pediatrics, rare disease, and hereditary cancer. She holds New York State Department of Health licenses in molecular genetic testing and cytogenetics, as well as a Clinical Genetic Molecular Biologist Scientist license from the California Department of Public Health. In addition, Dr. Schilit is certified in both molecular biology and cytogenetics by the American Society for Clinical Pathology.
Dr. Schilit holds bachelor’s and master’s degrees in Molecular Biology and Biochemistry from Wesleyan University. She earned her PhD in Genetics and Genomics at Harvard University, along with a certificate in Human Biology and Translational Medicine. Dr. Schilit subsequently completed an American Board of Medical Genetics and Genomics fellowship in Laboratory Genetics and Genomics at Harvard Medical School. Prior to joining Labcorp, she served as Assistant Laboratory Director at Myriad Women’s Health, where she specialized in reproductive carrier screening and noninvasive prenatal cell-free DNA screening.
Dr. Schilit has more than fifteen years of experience spanning basic science research and CLIA-certified clinical laboratories and is an author of numerous peer-reviewed publications in human genetics and genomics.
Area of expertise: Cytogenetics, Molecular Genetics and Genomics
Board certifications:
- Laboratory Genetics and Genomics, American Board of Medical Genetics and Genomics
- Clinical Genetic Molecular Biologist Scientist, California Department of Public Health
- Certificate of Qualification (Cytogenetics and Molecular Genetic Testing), New York State Department of Public Health
- Technologist in Cytogenetics, American Society for Clinical Pathology
- Technologist in Molecular Biology, American Society for Clinical Pathology
Memberships: Fellow, American College of Medical Genetics and Genomics
Publications:
- A comprehensive list of publications may be found at: https://www.ncbi.nlm.nih.gov/myncbi/samantha.schilit.1/bibliography/public/
- Notable first and co-first (*) author publications include:
Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang S, Kliesch S, Talkowski ME, Tüttelmann F, MacQueen AJ, Morton CC. SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. Am J Hum Genet. 2020 Jan;106(1):41-57. doi:10.1016/j.ajhg.2019.11.013. - Schilit SLP and Morton CC. 3C-PCR: A Novel Proximity Ligation-Based Approach to Phase Chromosomal Rearrangement Breakpoints with Distal Allelic Variants. Hum Genet. 2018 Jan;137(1):55-62. doi: 10.1007/s00439-017-1853-0.
- Schilit SLP and Schilit Nitenson A. My Identical Twin Sequenced Our Genome. J Genet Couns. 2017 Apr;26(2):276-278. doi: 10.1007/s10897-016-0046-7.
- Trunca C*, Mendell NR, Schilit SLP*. Reproductive risk estimation calculator for balanced translocation carriers: An improved web-based resource for medical genetics professionals. Curr Protoc Hum Genet. 2025 Jan;5(1):e70083. doi: 10.1002/cpz1.70083.
- Li J*, Schilit SLP*, Liang S, Qin N, Teng X, Zhang J. Novel Loss-of-Function SYCP2 Variants in Infertile Males Upgrade the Gene-Disease Clinical Validity Classification for SYCP2 and Male Infertility to Strong. Genes. 2024 Aug;15(8):1092. doi: 10.3390/genes15081092.