https://blog.ambrygen.com/ Find the latest Ambry Genetics corporate and patient news. en https://blog.ambrygen.com/ https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg 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 https://blog.ambrygen.com/ambry/post/426/joeys-story-a-mothers-reflection-for-rare-disease-month A rare disease mother shares her son's story of TBC1D24 disorder, a condition so rare that most families don’t hear its name until it becomes their world. Wed, 25 Feb 26 06:03:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/425/navigating-the-unknown-a-story-of-resilience-hope-and-advocacy-in-rare-disease A rare disease mother talks about Cornelia de Lange Syndrome (CdLS), a rare genetic disorder characterized by distinctive facial features, growth delays, intellectual disability, and limb abnormalities. Wed, 18 Feb 26 06:04:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/423/the-gene-scene-rpe65 Brooke Sample, MS, CGC, covers he RPE65 gene, which is critical for the "visual cycle"—the process of regenerating light-sensitive pigments in the eye. Mutations in this gene cause RPE65-related retinopathies which vary in severity and age of onset. Tue, 17 Feb 26 06:00:00 -0800 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/422/the-gene-scene-lmna This Gene Scene covers pathogenic variants in LMNA, which are associated with more than 10 distinct disorders with high clinical variability, referred to as the laminopathies. Tue, 10 Feb 26 07:14:00 -0800 Ambry Genetics Ambry Blog Cardio Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/421/the-gene-scene-bmpr1a Caitlin Reid, MS, LGC, explores the BMPR1A gene and its connection to juvenile polyposis syndrome (JPS). Tue, 03 Feb 26 07:58:00 -0800 Ambry Genetics Ambry Blog Cardio Colorectal Cancer Genetic Testing https://blog.ambrygen.com/ambry/post/420/the-gene-scene-kcnh2 This Gene Scene covers pathogenic variants in KCNH2, known to cause KCNH2-related long QT syndrome and KCNH2-related short QT syndrome Tue, 27 Jan 26 08:31:00 -0800 Ambry Genetics Ambry Blog Cardio Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/418/the-gene-scene-apob In this Gene Scene, Haley Streff, MS, CGC, covers the APOB gene and its association with familial hypercholesterolemia. Tue, 20 Jan 26 07:44:00 -0800 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing VUS https://blog.ambrygen.com/ambry/post/419/the-gene-scene-max Jessica Scott, MS, CGC, joins us in the Gene Scene to discuss MAX-related hereditary paraganglioma-pheochromocytoma and MAX-related multiple congenital anomalies syndrome. Tue, 13 Jan 26 08:14:00 -0800 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/417/the-gene-scene-runx1 Frankie Fann explores RUNX1 and its association with Familial Platelet Disorder with Associated Myeloid Malignancies in this Gene Scene. Tue, 06 Jan 26 06:22:00 -0800 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/414/study-finds-one-in-four-people-with-sarcoma-carry-a-pathogenic-variant-why-germline-testing-matters Huma Q Rana (Dana-Farber Cancer institute) explains a Journal of the National Cancer Institute study of whether germline pathogenic variants were more frequent in people with sarcoma than in cancer-free controls Tue, 30 Dec 25 06:52:00 -0800 Ambry Genetics Ambry Blog Clinical Research Genetic Testing Sarcoma https://blog.ambrygen.com/ambry/post/416/the-gene-scene-ret Katherine Crawford, MS, GCG, covers the RET gene and its association with Multiple Endocrine Neoplasia and other diseases. Tue, 30 Dec 25 06:00:00 -0800 Ambry Genetics Ambry Blog Genetic Counseling Genetic Testing https://blog.ambrygen.com/ambry/post/415/the-gene-scene-tgfbr2 Connolly Steigerwald, MS, CGC, joins us in the Gene Scene to explore TGFBR2-related Loeys-Dietz syndrome. Tue, 23 Dec 25 06:07:00 -0800 Ambry Genetics Ambry Blog Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/413/smarca4-pathogenic-variants-gynecological-cancer-histories-from-a-laboratory-tested-cohort Dr. Adela Rodríguez-Hernández (Dana-Farber Cancer Institute) shares results from a study in Gynecologic Oncology that better characterized cancer patterns among individuals with SMARCA4 gPVs, addressing gaps in counseling, surveillance, and prevention. Wed, 17 Dec 25 06:28:00 -0800 Ambry Genetics Ambry Blog Clinical Research Genetic Testing https://blog.ambrygen.com/ambry/post/412/the-gene-scene-kcnq1 The Gene Scene explores KCNQ1-related long QT Syndrome (LQTS), including autosomal dominant LQTS1, autosomal-recessive LQTS1 (AR-LQTS), and Jervell and Lange-Nielsen syndrome (JLNS) Tue, 16 Dec 25 06:08:00 -0800 Ambry Genetics Ambry Blog Cardio Genetic Counselors Genetic Testing https://blog.ambrygen.com/ambry/post/410/from-primary-care-to-oncology-digital-risk-tools-in-practice Dr. Melissa Frey explains the difference between Progeny and the CARE Program in providing patient history, analyzing criteria, and offering genetic testing in an OB-GYN setting for hereditary cancer. Wed, 10 Dec 25 06:00:00 -0800 Ambry Genetics Ambry Blog Genetic Testing