{"product_id":"glycogen-branching-enzyme-deficiency-gbed","title":"GBED Glycogen Branching Enzyme Deficiency","description":"\u003cdiv\u003e\u003cspan style=\"color: #c739d2;\"\u003e\u003cstrong\u003eDNA test\u003c\/strong\u003e\u003c\/span\u003e\u003c\/div\u003e\n\u003cdiv\u003e\n\u003cul\u003e\n\u003cli\u003e\n\u003cp class=\"p1\"\u003e\u003cspan class=\"s1\"\u003eDNA test for the Glycogen Branching Enzyme Deficiency (GBED). This\u003c\/span\u003e\u003cspan class=\"s1\"\u003e DNA test verifies the presence of the\u003cstrong\u003e recessive GBED allele\u003c\/strong\u003e.\u003c\/span\u003e\u003c\/p\u003e\n\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003c\/div\u003e\n\u003cp\u003e\u003cspan style=\"color: #c739d2;\"\u003e\u003cstrong\u003eSample\u003c\/strong\u003e\u003c\/span\u003e\u003c\/p\u003e\n\u003cul\u003e\n\u003cli\u003e\u003cstrong\u003e30 to 40 - hair roots - envelope\u003c\/strong\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cspan\u003eor\u003c\/span\u003e\u003cbr\u003e\n\u003cul\u003e\n\u003cli\u003e5 mL - blood - K3 EDTA tube\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp\u003e\u003cspan style=\"color: #c739d2;\"\u003e\u003cstrong\u003eTurnaround time\u003c\/strong\u003e\u003c\/span\u003e\u003c\/p\u003e\n\u003cul\u003e\n\u003cli\u003e2 to 5  working days\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp style=\"text-align: right;\"\u003e\u003cimg alt=\"\" src=\"\/\/cdn.shopify.com\/s\/files\/1\/2726\/7968\/files\/F_ISAG_MEMBER_small.jpg?v=1563820312\" style=\"float: none;\"\u003e\u003c\/p\u003e\n\u003cp\u003e\u003cspan style=\"color: #e8b80d;\"\u003e\u003cstrong\u003eWhy test?\u003c\/strong\u003e\u003c\/span\u003e\u003c\/p\u003e\n\u003cul\u003e\n\u003cli\u003e\u003cspan class=\"s1\"\u003eThis DNA test identify \u003cstrong\u003einapparent carriers\u003c\/strong\u003e of the GBED fatal disorder. \u003c\/span\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cul\u003e\n\u003cli\u003e\n\u003cspan class=\"s1\"\u003eIn \u003cstrong\u003ebreeding selection\u003c\/strong\u003e is recommended to avoid the crossbreeding of two GBED inapparent carriers to prevent\u003cem\u003e in utero\u003c\/em\u003e abortion of foetus and the birth of foals affected by GBED.\u003c\/span\u003e \u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cul\u003e\n\u003cli\u003eTo confirm GBED in affected foals.\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp\u003eDNA testing provide important tools for \u003cstrong\u003einformed choices\u003c\/strong\u003e about breeding selections to prevent abortion and the birth of affected foals.\u003c\/p\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003cul\u003e\u003c\/ul\u003e\n\u003cp\u003e \u003cstrong\u003eFrequency and affected breeds\u003c\/strong\u003e\u003c\/p\u003e\n\u003cul\u003e\n\u003cli\u003eMore frequent in Paint Horses and Quarter horses related breeds.\u003cbr\u003e\n\u003c\/li\u003e\n\u003cli\u003eA prevalence of  7,1% and 8,3% in the Paint and Quarter Horse breeds, respectively (Wagner et al., 2006).\u003cbr\u003e\n\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003cp\u003e\u003cspan style=\"color: #00afab;\"\u003e\u003cstrong\u003eResults description\u003c\/strong\u003e\u003c\/span\u003e\u003c\/p\u003e\n\u003cp class=\"p1\"\u003e\u003cspan class=\"s1\"\u003eThe DNA test verifies the presence of the\u003cstrong\u003e recessive GBED alleles\u003c\/strong\u003e and presents results as one of the following: \u003c\/span\u003e\u003c\/p\u003e\n\u003cul\u003e\n\u003cli\u003e\u003cspan class=\"s1\"\u003e\u003cstrong\u003eN\/\u003c\/strong\u003e - \u003cstrong\u003eNegative\u003c\/strong\u003e for GBED. Absence of the defective allele responsible for GBED.\u003c\/span\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eGBED\/N\u003c\/strong\u003e - \u003cstrong\u003eCarrier - Positive heterozygous for GBED\u003c\/strong\u003e. Presence of one copy of the allele responsible for GBED.\u003cspan class=\"Apple-converted-space\"\u003e  \u003c\/span\u003eThe horse is a carrier for GBED and can pass on a copy of GBED allele to their progeny when bred.\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eGBED\/ -\u003cspan class=\"Apple-converted-space\"\u003e\u003cspan class=\"Apple-converted-space\"\u003e \u003c\/span\u003e\u003c\/span\u003eAffected - Positive Homozygous for GBED\u003c\/strong\u003e. Presence of two copies of the allele responsible for GBED.\u003cspan class=\"Apple-converted-space\"\u003e  \u003c\/span\u003eThe animal is affected by GBED disorder. GBED is lethal causing abortion and\/or\u003cspan class=\"Apple-converted-space\"\u003e  \u003c\/span\u003eneonatal mortality.\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003cp\u003e\u003cstrong\u003eAdditional information\u003c\/strong\u003e\u003c\/p\u003e\n\u003cp class=\"p1\"\u003e\u003cspan class=\"s1\"\u003eGlycogen Branching Enzyme Deficiency (GBED) \u003cstrong\u003efatal condition\u003c\/strong\u003e caused by an \u003cstrong\u003eautosomal recessive\u003c\/strong\u003e genetic disorder that results in the bodies' inability to properly store sugar in the glycogen form.\u003c\/span\u003e\u003c\/p\u003e\n\u003cp class=\"p1\"\u003eIn a \u003cstrong\u003enormal horse\u003c\/strong\u003e, the body stores sugar as energy by converting glucose to glycogen.\u003c\/p\u003e\n\u003cp class=\"p1\"\u003eThis \u003cstrong\u003egenetic disorder\u003c\/strong\u003e  affects the production of the enzyme needed to branch the glycogen structure, preventing the horse from being able to adequately store sugar in the glycogen form. This means that the horse will not be able to store enough energy to fuel important organs, such as the muscles and brain.\u003c\/p\u003e\n\u003cp class=\"p1\"\u003e\u003cspan class=\"s1\"\u003eUnfortunately, \u003cstrong\u003eGBED is always fatal. \u003c\/strong\u003e\u003c\/span\u003e\u003c\/p\u003e\n\u003cp class=\"p1\"\u003e\u003cspan class=\"s1\"\u003eGBED often causes the foetus to be aborted \u003ci\u003ein utero. \u003c\/i\u003eWhen born \u003c\/span\u003e\u003cspan class=\"s1\"\u003emost affected foals will die in the first weeks of age\u003cstrong\u003e.\u003c\/strong\u003e \u003c\/span\u003e\u003c\/p\u003e\n\u003cp class=\"p1\"\u003eResearch studies showed that as many as 2,5% of aborted Quarter Horse foetus were homozygous for the GBED mutation \u003cspan\u003e(Wagner et al., 2006). \u003c\/span\u003e\u003c\/p\u003e\n\u003cp class=\"p1\"\u003e\u003cspan class=\"s1\"\u003eFoals born which are affected by GBED suffer from a range of clinical signs associated with this lack of sugar, such as low energy, weakness and difficulty rising.  \u003c\/span\u003e\u003cspan class=\"s1\"\u003eOther clinical signs include low body temperature, contracted muscles, seizures, and sudden death.\u003c\/span\u003e\u003c\/p\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003cp\u003e\u003cstrong\u003eREFERENCES\u003c\/strong\u003e\u003c\/p\u003e\n\u003cp\u003eTryon RC, Penedo MC, McCue ME, Valberg SJ, Mickelson JR, Famula TR, Wagner ML, Jackson M, Hamilton MJ, Nooteboom S, Bannasch DL.\u003cstrong\u003e Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses\u003c\/strong\u003e. J Am Vet Med Assoc. 2009 Jan 1;234(1):120-5. doi: 10.2460\/javma.234.1.120. PubMed PMID: 19119976.DOI:\u003cspan\u003e \u003c\/span\u003e\u003ca href=\"https:\/\/doi.org\/10.2460\/javma.234.1.120\" ref=\"aid_type=doi\" target=\"_blank\" rel=\"noopener noreferrer\"\u003e10.2460\/javma.234.1.120\u003c\/a\u003e\u003c\/p\u003e\n\u003cp\u003e\u003cbr\u003eWagner ML, Valberg SJ, Ames EG, Bauer MM, Wiseman JA, Penedo MC, Kinde H, Abbitt B, Mickelson JR. \u003cstrong\u003eAllele frequency and likely impact of the glycogen branching enzyme deficiency gene in Quarter Horse and Paint Horse populations.\u003c\/strong\u003e J Vet Intern Med. 2006 Sep-Oct;20(5):1207-11. PubMed PMID: 17063718.DOI:\u003cspan\u003e \u003c\/span\u003e\u003ca href=\"https:\/\/doi.org\/10.1892\/0891-6640(2006)20%5B1207:afalio%5D2.0.co;2\" ref=\"aid_type=doi\" target=\"_blank\" rel=\"noopener noreferrer\"\u003e10.1892\/0891-6640(2006)20[1207:afalio]2.0.co;2\u003c\/a\u003e\u003c\/p\u003e","brand":"Equigerminal","offers":[{"title":"Default Title","offer_id":29451474927660,"sku":"","price":43.05,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/2726\/7968\/products\/GBED.png?v=1571094714","url":"https:\/\/www.equigerminal.org\/eu\/products\/glycogen-branching-enzyme-deficiency-gbed","provider":"Equigerminal","version":"1.0","type":"link"}