https://blog.ambrygen.com/ambry/list Find the latest Ambry Genetics Ambry news. en https://blog.ambrygen.com/ambry/list https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg https://blog.ambrygen.com/ambry/post/452/the-gene-scene-pole This Gene Scene covers POLE-related polymerase proofreading-associated polyposis (PPAP), POLE-related constitutional mismatch repair deficiency-like (CMMRD-like) syndrome, and POLE deficiency. Tue, 30 Jun 26 06:02:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/450/the-gene-scene-flnc Kristina Garcia, MCGS, CGC, explores the FLNC gene and its association with FLNC-related dilated cardiomyopathy and other myopathies. Tue, 23 Jun 26 06:13:00 -0700 Ambry Genetics Ambry Blog Cardio Genetic Testing https://blog.ambrygen.com/ambry/post/449/the-gene-scene-trdn In this Gene Scene, Aubrey Rose, MS, CGC, explores the TRDN gene and its association with TRDN-related arrhythmia with or without skeletal muscle weakness. Tue, 16 Jun 26 06:01:00 -0700 Ambry Genetics Ambry Blog Cardio Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/448/the-gene-team-msh6 Nina Buccafuri discusses MSH6 and its associations with Lynch syndrome, and CMMR-D. Tue, 09 Jun 26 06:02:00 -0700 Ambry Genetics Ambry Blog BRCA Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/447/the-gene-team-mlh3 Amanda Jacquart, MS, LCGC, covers MLH3 and related polyposis and colorectal cancer. Tue, 02 Jun 26 06:12:00 -0700 Ambry Genetics Ambry Blog Colorectal Cancer Genetic Counseling Genetic Testing https://blog.ambrygen.com/ambry/post/446/the-gene-scene-atp7b Moriah Melhado, MSPH, LCGC, explores Wilson disease associated with variants in the ATP7B gene. Tue, 26 May 26 06:47:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/443/hereditary-cancer-testing-menu-enhancements-may-2026 Describing the new hereditary cancer test menu changes Tue, 19 May 26 06:44:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Hereditary Cancer Multigene Panel Testing https://blog.ambrygen.com/ambry/post/445/the-gene-scene-ryr2 Haley Streff, MS, CGC, explores ventricular arrhythmias, including catecholaminergic polymorphic ventricular tachycardia (CPVT) and calcium release deficiency syndrome (CRDS), associated with variants in the RYR2 gene. Tue, 19 May 26 06:11:00 -0700 Ambry Genetics Ambry Blog Cardio Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/444/duonovo-how-long-read-sequencing-can-improve-access-to-genetic-testing De novo variants cause many rare genetic disorders. duoNovo uses long-read sequencing to identify de novo variants using only one biological parent, improving access to the most accurate testing for more patients. Wed, 13 May 26 06:26:00 -0700 Ambry Genetics Ambry Blog Gene Mutation Genetic Testing https://blog.ambrygen.com/ambry/post/441/the-gene-scene-sdhb In this Gene Scene, Jewel Wasson, MS, CGC, explores the SDHB gene and its association with SDHB-related Hereditary Pheochromocytoma-Paraganglioma and SDHB-related Mitochondrial Complex II Deficiency. Tue, 12 May 26 07:41:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/440/the-gene-scene-mybpc3 Connolly Steigerwald explores the MYBP3 gene. Pathogenic variants in this gene have been associated with a spectrum of MYBPC3-related cardiomyopathies, including hypertrophic cardiomyopathy (HCM) and left ventricular noncompaction cardiomyopathy (LVNC), Tue, 05 May 26 05:31:00 -0700 Ambry Genetics Ambry Blog Cardio Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/442/the-gene-scene-ryr1 Each week, we explore a gene from the ACMG Secondary Findings list. Learn about the RYR1 gene and related pathogenic variants Tue, 28 Apr 26 09:22:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/439/empowered-patients-start-with-better-education The Ambry CARE Program® (CARE) believes patients make better decisions when they understand their options. That’s why education is built directly into the CARE experience, designed around how patients actually learn. Mon, 27 Apr 26 06:38:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Hereditary Cancer https://blog.ambrygen.com/ambry/post/438/the-gene-scene-tmem127 Sarah Campian, MS, CGC, explores the TMEM127 gene and TMEM127-related hereditary pheochromocytoma-paraganglioma (PCC-PGL) in this Gene Scene covering a clinically actionable gene from the ACMG Secondary Findings List Tue, 21 Apr 26 06:32:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/435/leading-the-shift-to-proactive-care-the-christ-hospitals-high-risk-program-strategy The Christ Hospital Health Network is turning to proactive population health strategy with The CARE Program to identify more at-risk patients for hereditary cancer risks. Thu, 16 Apr 26 06:45:00 -0700 Ambry Genetics Ambry Blog Breast Cancer Genetic Testing Hereditary Cancer https://blog.ambrygen.com/ambry/post/437/the-gene-scene-hpdl Charlie King, MS, CGC, explores the HPDL gene and associations with related neurological disorders. Emerging treatments have impacted some patients diagnosed with an HPDL-related neurological disorder. Tue, 14 Apr 26 06:46:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/436/a-hidden-cancer-found-in-time-one-patients-care-journey Danielle Rogers discusses the case study of a patient with RET, her genetic testing, and personalized screening journey. Thu, 09 Apr 26 08:12:00 -0700 Ambry Genetics Ambry Blog Breast Cancer Genetic Testing https://blog.ambrygen.com/ambry/post/434/the-gene-scene-gaa Explore the clinical implications of variants of the GAA gene, which are known to cause glycogen storage disease type II, commonly known as Pompe disease, which is inherited in an autosomal recessive fashion. Tue, 07 Apr 26 06:24:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/431/the-care-difference-a-smarter-workflow-for-high-risk-screening Danielle Rogers, oncology and genetics nurse practitioner, recently shared her experience with providing personalized assessments of cancer risks before and after implementation of the Ambry CARE Program® (CARE). Wed, 25 Mar 26 06:00:00 -0700 Ambry Genetics Ambry Blog BRCA1 & 2 Breast Cancer Genetic Counseling https://blog.ambrygen.com/ambry/post/432/the-gene-scene-smad4 Rachel Bluebond explores SMAD4 and its associated conditions of juvenile polyposis syndrome (JPS) and Myhre syndrome. Tue, 24 Mar 26 06:15:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/430/the-gene-scene-casq2 The Gene Scene covers CASQ2 from the ACMG Secondary Findings list and it's link to CASQ2-related catecholaminergic polymorphic ventricular tachycardia (CPVT). Tue, 17 Mar 26 06:37:00 -0700 Ambry Genetics Ambry Blog Cardio Genetic Counseling Genetic Testing https://blog.ambrygen.com/ambry/post/424/making-waves-with-maves Discover how a BRCA2 variant reclassification, thanks in part to new MAVEs data and the Ambry Classifi® Program, unlocked potentially life-saving options for a 2x breast cancer survivor. Wed, 11 Mar 26 07:48:00 -0700 Ambry Genetics Ambry Blog BRCA Breast Cancer Genetic Testing Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/428/the-gene-scene-calm2 In this Gene Scene, Katherine Crawford covers gene-disase validity in the CALM2 gene leading CALM2–related calmodulinopathy with clinical considerations for genetic counselors. Tue, 10 Mar 26 06:19:00 -0700 Ambry Genetics Ambry Blog Cardio Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/429/where-genomic-insights-meet-clinical-action Seth Berger discusses wins in genome and exome genetic testing and clinical insights for future advancements. Wed, 04 Mar 26 06:57:00 -0800 Ambry Genetics Ambry Blog Genomics Whole Exome Sequencing whole genome sequencing https://blog.ambrygen.com/ambry/post/427/the-gene-scene-rb1 Caitlin Reid, MS, LGC, explores RB1 and its association with RBI-related retinoblastoma in this weekly snapshot of clinically actionable genes from the ACMG Secondary Findings List Tue, 03 Mar 26 06:53:00 -0800 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing