https://blog.ambrygen.com/list/category/Genetic%20Testing Find the latest Ambry Genetics news by category: Genetic Testing en https://blog.ambrygen.com/list/category/Genetic%20Testing https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg 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 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 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 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 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 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 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 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 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 Genetic Testing 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 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 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 Testing 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 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 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 Genetic Testing 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 Genetic Testing 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 Testing 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 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 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 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 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 Testing 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 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 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 Genetic Testing