{"product_id":"egpcrfx","title":"Fragile X Test (FXS)","description":"\u003cp\u003eThe Fragile X Syndrome test is a molecular genetic test that analyses the FMR1 gene on the X chromosome to determine the number of CGG trinucleotide repeats. An abnormal expansion of these repeats leads to silencing of the FMR1 gene, which prevents the production of the FMRP protein, essential for normal brain development.\u003cbr\u003eThis test is used to diagnose:\u003cbr\u003eFragile X Syndrome (FXS) in individuals showing developmental delays, learning disabilities, or autism-like behavior.\u003cbr\u003eCarrier status in individuals with a family history of FXS.\u003cbr\u003eRelated conditions like Fragile X-associated Tremor\/Ataxia Syndrome (FXTAS) and Fragile X-associated Primary Ovarian Insufficiency (FXPOI) in premutation carriers.\u003cbr\u003eTesting is performed using:\u003cbr\u003ePCR to estimate CGG repeat size.\u003cbr\u003eEarly diagnosis allows for timely interventions, appropriate therapies, and genetic counselling for affected individuals and their families.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790444949790,"sku":"EGPCRFX","price":1700.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-general-genome-v1.png?v=1793571358","url":"https:\/\/shop.enigmagenomics.com\/en\/products\/egpcrfx","provider":"Enigma Genomics","version":"1.0","type":"link"}