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Articles Tagged: Genetic Counselors
September 23, 2025
The Gene Scene: FBN1
This installment of The Gene Scene covers the FBN1 gene (NM_000138.4). Pathogenic variants in this gene are known to cause Marfan syndrome and other conditions.
Gene Scene
Genetic Counselors
Genetic Testing
Marfan Syndrome
September 16, 2025
The Gene Scene: TTN
The Gene Scene covers TTN and related cardiomyopathy, muscular dystrophy, and other myopathies.
Gene Scene
Genetic Counselors
Genetic Testing
August 26, 2025
Making Waves: Honoring a Mother’s Final Wish Through Creative Care
Arravinth (Avi) Anantharajah, MS, LCGC, and his remarkable story of one family’s determination to complete genetic testing and how Avi’s compassion and ingenuity made it…
BRCA
Genetic Counselors
Genetic Testing
Making Waves
August 5, 2025
The Gene Scene: TGFBR1
This installment of the Gene Scene covers TGFBR1-related Loeys-Dietz Syndrome.
Gene Mutation
Gene Scene
Genetic Counselors
July 21, 2025
The Gene Scene: PCSK9
This installment of the Gene Scene explores PCSK9 variants.
Gene Mutation
Gene Scene
Genetic Counselors
Genetic Testing
February 28, 2025
From Odyssey to Answers: How Progeny Helps Improve Rare Disease Care
For Rare Disease Day, genetic counselor Liam Riddle explores genetic testing solutions.
Genetic Counselors
Genetic Testing Accuracy
Pediatrics
progeny
Whole Exome Sequencing
