- By Sarah Kreykes, MS, CGC
- Posted July 21, 2026
The Gene Scene: TTR
GENE SCENE SPOTLIGHT: This gene has been in the news (and many commercials) due to the impact that emerging treatments have had for some patients diagnosed with TTR Amyloidosis. Clinical Phenotype Summary: The TTR gene encodes the transthyretin protein and is located on chromosome 18q12.1. Pathogenic variants in this…
- By Libby Couchon, MS, LCGC
- Posted July 7, 2026
The Gene Scene: SMAD3
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified…
- By Frankie Fann, MS, CGC
- Posted June 30, 2026
The Gene Scene: POLE
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Kristina Garcia, MGCS, CGC
- Posted June 23, 2026
The Gene Scene: FLNC
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Aubrey Rose, MS, CGC
- Posted June 16, 2026
The Gene Scene: TRDN
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Nina Buccafuri, MS, CGC
- Posted June 9, 2026
The Gene Team: MSH6
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Amanda Jacquart, MS, LCGC
- Posted June 2, 2026
The Gene Team: MLH3
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Moriah Melhado, MSPH, LCGC
- Posted May 26, 2026
The Gene Scene: ATP7B
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Lauren Csukardi
- Posted May 19, 2026
Hereditary Cancer Testing Menu Enhancements–May 2026
Our latest hereditary cancer menu enhancements are now available! Ambry is dedicated to the search for new, evidence-backed insights that can meaningfully impact patient care. Our latest findings include additional evidence for MLH3, which has resulted in an upgraded gene-disease validity (GDV) for autosomal recessive polyposis…
- By Haley Streff, MS, CGC
- Posted May 19, 2026
The Gene Scene: RYR2
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…