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/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 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 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 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 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 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 https://blog.ambrygen.com/ambry/post/411/the-gene-scene-men1 The Gene Scene explores the gene-disease validity of MEN1. Pathogenic variants in this gene are known to cause multiple endocrine neoplasia type 1 (MEN1) and MEN1-related familial isolated hyperparathyroidism (FIHP). Tue, 09 Dec 25 06:46:00 -0800 Ambry Genetics Ambry Blog Genetic Testing https://blog.ambrygen.com/ambry/post/409/the-gene-scene-folr1 In this Gene Scene, Margo Gallegos, MS, CGC, discusses FOLR1, its link to cerebral folate transport deficiency, and new FDA statements about treating patients with autism. Tue, 02 Dec 25 13:10:00 -0800 Ambry Genetics Ambry Blog Genetic Testing https://blog.ambrygen.com/ambry/post/408/the-gene-scene-gla The Gene Scene covers the GLA gene and its association with Fabry disease. Tue, 25 Nov 25 06:20:00 -0800 Ambry Genetics Ambry Blog Genetic Testing https://blog.ambrygen.com/ambry/post/403/finding-new-hope-magnificent-minds-and-the-future-of-autism-care In the third blog in this series, Dr. Suzanne Goh discusses the Cortica Care model, genetic testing, and the future of autism care. Wed, 19 Nov 25 09:59:00 -0800 Ambry Genetics Ambry Blog Genetic Testing https://blog.ambrygen.com/ambry/post/407/the-gene-scene-acta2 The Gene Scene covers ACTA2. Pathogenic alterations in this gene have been associated with ACTA2-related vascular disorders, including familial thoracic aortic aneurysms and dissections (TAAD) and multisystemic smooth muscle dysfunction syndrome (MSMDS). Tue, 18 Nov 25 06:44:00 -0800 Ambry Genetics Ambry Blog Genetic Testing https://blog.ambrygen.com/ambry/post/402/finding-new-hope-the-whole-child-model-and-the-role-of-genetic-testing Dr. Suzanne Goh discusses the Cortica Care model for autism, the importance of genetic testing for giving a diagnosis to guide care. Wed, 12 Nov 25 06:00:00 -0800 Ambry Genetics Ambry Blog Genetic Testing https://blog.ambrygen.com/ambry/post/406/the-gene-scene-col3a1 In this week's Gene Scene, Grant Bonesteele, MS, CGC, spotlights COL3A1and its association with Ehlers-Danlos Syndrome and Multiple Congenital Anomalies Syndrome. Tue, 11 Nov 25 06:16:00 -0800 Ambry Genetics Ambry Blog Genetic Testing