{"id":2720,"date":"2025-03-18T11:16:48","date_gmt":"2025-03-18T11:16:48","guid":{"rendered":"https:\/\/genosophy.gr\/product\/monogonidiakos-diavitis-mody-neognikos-diavitis-2\/"},"modified":"2025-04-24T13:59:31","modified_gmt":"2025-04-24T13:59:31","slug":"monogonidiakos-diavitis-mody-neognikos-diavitis-2","status":"publish","type":"product","link":"https:\/\/genosophy.gr\/en\/product\/monogonidiakos-diavitis-mody-neognikos-diavitis-2\/","title":{"rendered":"Monogenic diabetes"},"content":{"rendered":"

Monogenic diabetes is a rare form of diabetes caused by a mutation in a single gene<\/strong>, in contrast to type 1 and type 2 diabetes, which are polygenic and multifactorial. The two main forms are MODY (Maturity-Onset Diabetes of the Young)<\/strong>, which develops before the age of 25, and Neonatal Diabetes Mellitus (NDM)<\/strong>, which presents within the first 6 months of life<\/strong>.<\/p>\n

Genetic testing plays a critical role<\/strong>, as monogenic diabetes is often misdiagnosed<\/strong> as type 1 or type 2 diabetes, leading to inappropriate treatments. Proper diagnosis allows for tailored therapeutic decisions<\/strong>, accurate prognosis<\/strong>, and family risk assessment<\/strong>.<\/p>\n

GENOSOPHY\u00ae Monogenic Diabetes Panel \u2013 What It Covers<\/h3>\n

This test involves NGS sequencing of 68 genes<\/strong> and dozens of variants associated with:<\/p>\n

    \n
  1. MODY (Maturity-Onset Diabetes of the Young)<\/strong><\/li>\n<\/ol>\n

    Caused by mutations in HNF1A, HNF4A, GCK, HNF1B<\/strong>, and others.<\/p>\n

      \n
    • Typically appears before age 25<\/strong><\/li>\n
    • Follows an autosomal dominant<\/strong> inheritance pattern<\/li>\n
    • Often managed effectively with oral antidiabetic medications<\/strong> (e.g., sulfonylureas) rather than insulin<\/li>\n<\/ul>\n
        \n
      1. Neonatal Diabetes Mellitus (NDM)<\/strong><\/li>\n<\/ol>\n
          \n
        • Occurs within the first 6 months of life<\/strong><\/li>\n
        • Caused by mutations in genes like KCNJ11, ABCC8, INS<\/strong><\/li>\n
        • Some forms respond to oral therapy<\/strong> instead of lifelong insulin<\/li>\n<\/ul>\n
            \n
          1. Syndromic Forms of Monogenic Diabetes<\/strong><\/li>\n<\/ol>\n
              \n
            • HNF1B-related diabetes<\/strong> (Renal Cysts and Diabetes Syndrome)<\/li>\n
            • Mitochondrial diabetes<\/strong>, including MIDD<\/strong> and MELAS syndrome<\/strong><\/li>\n<\/ul>\n

              Who Should Consider This Test?<\/h3>\n
                \n
              • Individuals diagnosed with diabetes before age 25<\/strong> and negative for autoimmune markers<\/strong><\/li>\n
              • People with a family history<\/strong> of diabetes affecting multiple generations<\/strong><\/li>\n
              • Infants diagnosed with diabetes before 6 months of age<\/strong><\/li>\n
              • Patients with atypical diabetes<\/strong> unresponsive to standard type 1 or 2 treatment<\/li>\n
              • Families with known pathogenic variants<\/strong> related to monogenic diabetes<\/li>\n<\/ul>\n

                Clinical Benefits<\/h3>\n

                Diagnosis<\/h4>\n
                  \n
                • Identification of pathogenic mutations<\/strong> causing monogenic diabetes<\/li>\n
                • Accurate differentiation<\/strong> between type 1, type 2, and monogenic forms<\/li>\n<\/ul>\n

                  Prognosis<\/h4>\n
                    \n
                  • Assessment of complication risk<\/strong><\/li>\n
                  • Evaluation of familial diabetes risk<\/strong><\/li>\n<\/ul>\n

                    Management<\/h4>\n
                      \n
                    • Treatment selection<\/strong> \u2013 insulin may be replaced with oral therapy<\/strong> (e.g., sulfonylureas)<\/li>\n
                    • Tailored medical management and monitoring strategies<\/strong><\/li>\n
                    • Genetic counseling and preventive care<\/strong> for family members<\/li>\n<\/ul>\n

                      Test Procedure<\/h3>\n
                        \n
                      1. Sample collection<\/strong> via saliva or blood<\/li>\n
                      2. Next-Generation Sequencing (NGS)<\/strong> of 68 genes<\/strong> and non-coding regulatory regions<\/li>\n
                      3. Results available within approximately 5 weeks<\/strong><\/li>\n<\/ol>\n

                        Optional: Detailed genetic counseling by Professors of the Medical School of the National and Kapodistrian University of Athens (NKUA)<\/strong><\/p>\n

                        Genes Included in the GENOSOPHY\u00ae Monogenic Diabetes Panel<\/h3>\n

                        ABCC8, APPL1, BLK, CEL*, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, GLUD1*, HADH, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, NEUROD1, NEUROG3, PAX4, PDX1, PPARG, PTF1A, RFX6, SLC16A1, SLC2A2, UCP2, WFS1, ZFP57, ZNF814<\/p>\n

                        Note:<\/strong> In addition to full exon sequencing, promoters, introns<\/strong>, and known non-coding pathogenic variants<\/strong> are analyzed.
                        \nDetection sensitivity<\/strong> for SNVs, indels, and CNVs<\/strong> is >99%<\/strong>. Slightly reduced sensitivity may occur in genes marked with an asterisk (*).<\/p>\n","protected":false},"excerpt":{"rendered":"

                        Monogenic diabetes is a rare form of diabetes caused by a mutation in a single gene, in contrast to type 1 and type 2 diabetes, which are polygenic and multifactorial. The two main forms are MODY (Maturity-Onset Diabetes of the Young), which develops before the age of 25, and Neonatal Diabetes Mellitus (NDM), which presents […]<\/p>\n","protected":false},"featured_media":2463,"template":"","meta":{"_acf_changed":false},"product_brand":[],"product_cat":[81],"product_tag":[],"class_list":{"0":"post-2720","1":"product","2":"type-product","3":"status-publish","4":"has-post-thumbnail","6":"product_cat-metabolic-ipiresies-gia-epaggelmaties-en","8":"first","9":"instock","10":"taxable","11":"shipping-taxable","12":"product-type-simple"},"acf":[],"_links":{"self":[{"href":"https:\/\/genosophy.gr\/en\/wp-json\/wp\/v2\/product\/2720","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genosophy.gr\/en\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/genosophy.gr\/en\/wp-json\/wp\/v2\/types\/product"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/genosophy.gr\/en\/wp-json\/wp\/v2\/media\/2463"}],"wp:attachment":[{"href":"https:\/\/genosophy.gr\/en\/wp-json\/wp\/v2\/media?parent=2720"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/genosophy.gr\/en\/wp-json\/wp\/v2\/product_brand?post=2720"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/genosophy.gr\/en\/wp-json\/wp\/v2\/product_cat?post=2720"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/genosophy.gr\/en\/wp-json\/wp\/v2\/product_tag?post=2720"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}