Episode 31: Genetic Testing
Update: 2024-10-07
Description
Dr. Matthew Sampson, a pediatric nephrologist and associate professor of pediatrics at Harvard Medical School, walks us through genetic testing for pediatric patients with kidney disease. He discusses indications for genetic testing and how to interpret results. He also talks about his lab and work as a genomics researcher.
Episode References
Sampson Lab: https://www.sampsonlab.org/
ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/
KDIGO genetic testing guidelines: https://kdigo.org/wp-content/uploads/2022/05/KDIGO-Genetics-in-CKD-Conference-Report-Corrected-Proof.pdf
NKF genetic testing guidelines: https://www.ajkd.org/article/S0272-6386(24)00871-0/fulltext
CJASN Genomics of Kidney Disease Series: https://journals.lww.com/CJASN/Documents/collections/kidney.pdf
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