https://blog.ambrygen.com/list/category/Genetic%20Counselors Find the latest Ambry Genetics news by category: Genetic Counselors en https://blog.ambrygen.com/list/category/Genetic%20Counselors https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg 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 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 Counselors 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 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 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 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 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 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 Counselors 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 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 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 Counselors 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 Counselors 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 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 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 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 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 Counselors 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 Counselors 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 Counselors 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 Counselors https://blog.ambrygen.com/ambry/post/405/the-gene-scene-palb2 The Gene Scene covers PALB2 and its association with prostate, breast, ovarian and other cancers and genetic predisposition to other conditions. Tue, 04 Nov 25 05:50:00 -0800 Ambry Genetics Ambry Blog Genetic Counselors https://blog.ambrygen.com/ambry/post/396/the-gene-scene-ldlr The Gene Scene covers LDLR and its effect on hypercholesterolemia Tue, 07 Oct 25 09:38:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors https://blog.ambrygen.com/ambry/post/395/the-gene-scene-fbn1 This installment of The Gene Scene covers the FBN1 gene (NM_000138.4). Pathogenic variants in this gene are known to cause Marfan syndrome and other conditions. Tue, 23 Sep 25 09:07:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors https://blog.ambrygen.com/ambry/post/393/the-gene-scene-ttn The Gene Scene covers TTN and related cardiomyopathy, muscular dystrophy, and other myopathies. Tue, 16 Sep 25 07:22:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors https://blog.ambrygen.com/ambry/post/390/making-waves-honoring-a-mothers-final-wish-through-creative-care Arravinth (Avi) Anantharajah, MS, LCGC, and his remarkable story of one family’s determination to complete genetic testing and how Avi’s compassion and ingenuity made it possible. Tue, 26 Aug 25 00:11:00 -0700 Ambry Genetics Ambry Blog Genetic Counselors