{"product_id":"congenital-disorders-of-glycosylation-gene-panel","title":"Congenital disorders of glycosylation gene panel","description":"\u003cp\u003eAmniotic Fluid\/ Chorionic Villus Sample\/Peripheral Venous Blood\/Cord blood,\/Extracted DNA\/Dry Blood Spot\u003c\/p\u003e\n\u003cdiv class=\"flex max-w-full flex-col gap-4 grow\"\u003e\n\u003cdiv data-message-author-role=\"assistant\" data-message-id=\"b3dee3c7-d221-4358-9498-5b2d168881c4\" dir=\"auto\" data-message-model-slug=\"gpt-5-5\" class=\"min-h-8 text-message relative flex w-full flex-col items-end gap-2 text-start break-words whitespace-normal outline-none keyboard-focused:focus-ring [.text-message+\u0026amp;]:mt-1\" data-turn-start-message=\"true\" tabindex=\"0\"\u003e\n\u003cdiv class=\"flex w-full flex-col gap-1 empty:hidden\"\u003e\n\u003cdiv class=\"markdown prose dark:prose-invert wrap-break-word w-full light markdown-new-styling\"\u003e\n\u003ch1 data-section-id=\"11zo561\" data-start=\"0\" data-end=\"56\"\u003eCongenital Disorders of Glycosylation (CDG) Gene Panel\u003c\/h1\u003e\n\u003ch2 data-section-id=\"1qgrpps\" data-start=\"58\" data-end=\"74\"\u003eTest Overview\u003c\/h2\u003e\n\u003cp data-start=\"75\" data-end=\"420\"\u003eThe \u003cstrong data-start=\"79\" data-end=\"137\"\u003eCongenital Disorders of Glycosylation (CDG) Gene Panel\u003c\/strong\u003e is an advanced genetic test designed to identify inherited disorders affecting the body’s glycosylation process — the essential biochemical pathway responsible for attaching sugar molecules to proteins and lipids. Defects in this process can impact multiple organs and body systems.\u003c\/p\u003e\n\u003cp data-start=\"422\" data-end=\"549\"\u003eThis panel analyzes multiple genes associated with various types of CDG to help diagnose rare metabolic and genetic conditions.\u003c\/p\u003e\n\u003chr data-start=\"551\" data-end=\"554\"\u003e\n\u003ch2 data-section-id=\"14cca64\" data-start=\"556\" data-end=\"587\"\u003eWhy This Test Is Recommended\u003c\/h2\u003e\n\u003cp data-start=\"588\" data-end=\"654\"\u003eThis test may be advised for individuals showing symptoms such as:\u003c\/p\u003e\n\u003cul data-start=\"656\" data-end=\"925\"\u003e\n\u003cli data-section-id=\"za4koz\" data-start=\"656\" data-end=\"677\"\u003eDevelopmental delay\u003c\/li\u003e\n\u003cli data-section-id=\"1wmz2qn\" data-start=\"678\" data-end=\"707\"\u003eHypotonia (low muscle tone)\u003c\/li\u003e\n\u003cli data-section-id=\"fx0un0\" data-start=\"708\" data-end=\"718\"\u003eSeizures\u003c\/li\u003e\n\u003cli data-section-id=\"yd5o6h\" data-start=\"719\" data-end=\"753\"\u003ePoor growth or failure to thrive\u003c\/li\u003e\n\u003cli data-section-id=\"b9kpnk\" data-start=\"754\" data-end=\"773\"\u003eLiver dysfunction\u003c\/li\u003e\n\u003cli data-section-id=\"1nqat2s\" data-start=\"774\" data-end=\"801\"\u003eCoagulation abnormalities\u003c\/li\u003e\n\u003cli data-section-id=\"kgfofc\" data-start=\"802\" data-end=\"827\"\u003eIntellectual disability\u003c\/li\u003e\n\u003cli data-section-id=\"1s1wrju\" data-start=\"828\" data-end=\"851\"\u003eNeurological symptoms\u003c\/li\u003e\n\u003cli data-section-id=\"1y8zth6\" data-start=\"852\" data-end=\"869\"\u003eMuscle weakness\u003c\/li\u003e\n\u003cli data-section-id=\"9o3iw3\" data-start=\"870\" data-end=\"889\"\u003eEye abnormalities\u003c\/li\u003e\n\u003cli data-section-id=\"11hky4a\" data-start=\"890\" data-end=\"925\"\u003eUnexplained multisystem disorders\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003chr data-start=\"927\" data-end=\"930\"\u003e\n\u003ch2 data-section-id=\"17xbmye\" data-start=\"932\" data-end=\"947\"\u003eKey Benefits\u003c\/h2\u003e\n\u003cul data-start=\"949\" data-end=\"1251\"\u003e\n\u003cli data-section-id=\"1jdurh5\" data-start=\"949\" data-end=\"995\"\u003eComprehensive screening of CDG-related genes\u003c\/li\u003e\n\u003cli data-section-id=\"41m55r\" data-start=\"996\" data-end=\"1054\"\u003eEarly and accurate diagnosis of rare inherited disorders\u003c\/li\u003e\n\u003cli data-section-id=\"10vdl7n\" data-start=\"1055\" data-end=\"1102\"\u003eHelps guide treatment and clinical management\u003c\/li\u003e\n\u003cli data-section-id=\"1lhoytq\" data-start=\"1103\" data-end=\"1152\"\u003eSupports genetic counseling and family planning\u003c\/li\u003e\n\u003cli data-section-id=\"ordpbq\" data-start=\"1153\" data-end=\"1194\"\u003eIdentifies carrier status in some cases\u003c\/li\u003e\n\u003cli data-section-id=\"1cvbpfc\" data-start=\"1195\" data-end=\"1251\"\u003eReduces the need for multiple individual genetic tests\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003chr data-start=\"1253\" data-end=\"1256\"\u003e\n\u003ch2 data-section-id=\"1dw2yac\" data-start=\"1258\" data-end=\"1282\"\u003eWhat the Test Detects\u003c\/h2\u003e\n\u003cp data-start=\"1283\" data-end=\"1362\"\u003eThe panel evaluates mutations and pathogenic variants in genes associated with:\u003c\/p\u003e\n\u003cul data-start=\"1364\" data-end=\"1536\"\u003e\n\u003cli data-section-id=\"10zl60g\" data-start=\"1364\" data-end=\"1395\"\u003eProtein glycosylation defects\u003c\/li\u003e\n\u003cli data-section-id=\"175nmae\" data-start=\"1396\" data-end=\"1427\"\u003eLipid glycosylation disorders\u003c\/li\u003e\n\u003cli data-section-id=\"1nj8b85\" data-start=\"1428\" data-end=\"1479\"\u003eN-linked and O-linked glycosylation abnormalities\u003c\/li\u003e\n\u003cli data-section-id=\"2a7vz3\" data-start=\"1480\" data-end=\"1536\"\u003eMetabolic pathway dysfunctions linked to CDG syndromes\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp data-start=\"1538\" data-end=\"1574\"\u003eCommonly analyzed genes may include:\u003c\/p\u003e\n\u003cul data-start=\"1575\" data-end=\"1708\"\u003e\n\u003cli data-section-id=\"hq9smi\" data-start=\"1575\" data-end=\"1585\"\u003e\u003cstrong data-start=\"1577\" data-end=\"1585\"\u003ePMM2\u003c\/strong\u003e\u003c\/li\u003e\n\u003cli data-section-id=\"d0iwqk\" data-start=\"1586\" data-end=\"1595\"\u003e\u003cstrong data-start=\"1588\" data-end=\"1595\"\u003eMPI\u003c\/strong\u003e\u003c\/li\u003e\n\u003cli data-section-id=\"5hjefo\" data-start=\"1596\" data-end=\"1606\"\u003e\u003cstrong data-start=\"1598\" data-end=\"1606\"\u003eALG6\u003c\/strong\u003e\u003c\/li\u003e\n\u003cli data-section-id=\"hw196n\" data-start=\"1607\" data-end=\"1619\"\u003e\u003cstrong data-start=\"1609\" data-end=\"1619\"\u003eDPAGT1\u003c\/strong\u003e\u003c\/li\u003e\n\u003cli data-section-id=\"1u0aofe\" data-start=\"1620\" data-end=\"1632\"\u003e\u003cstrong data-start=\"1622\" data-end=\"1632\"\u003eSRD5A3\u003c\/strong\u003e\u003c\/li\u003e\n\u003cli data-section-id=\"p25rny\" data-start=\"1633\" data-end=\"1647\"\u003e\u003cstrong data-start=\"1635\" data-end=\"1647\"\u003eATP6V0A2\u003c\/strong\u003e\u003c\/li\u003e\n\u003cli data-section-id=\"1tpg2oj\" data-start=\"1648\" data-end=\"1708\"\u003eAnd several other clinically relevant CDG-associated genes\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003chr data-start=\"1710\" data-end=\"1713\"\u003e\n\u003ch2 data-section-id=\"12hh156\" data-start=\"1715\" data-end=\"1733\"\u003eSample Required\u003c\/h2\u003e\n\u003cul data-start=\"1734\" data-end=\"1767\"\u003e\n\u003cli data-section-id=\"14e2mw3\" data-start=\"1734\" data-end=\"1767\"\u003eBlood sample (Peripheral Blood)\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003chr data-start=\"1769\" data-end=\"1772\"\u003e\n\u003ch2 data-section-id=\"1n6anig\" data-start=\"1774\" data-end=\"1788\"\u003eMethodology\u003c\/h2\u003e\n\u003cul data-start=\"1789\" data-end=\"1916\"\u003e\n\u003cli data-section-id=\"oumte0\" data-start=\"1789\" data-end=\"1823\"\u003eNext Generation Sequencing (NGS)\u003c\/li\u003e\n\u003cli data-section-id=\"1jl2n5v\" data-start=\"1824\" data-end=\"1849\"\u003eBioinformatics analysis\u003c\/li\u003e\n\u003cli data-section-id=\"12rbf8v\" data-start=\"1850\" data-end=\"1916\"\u003eVariant interpretation based on international genetic guidelines\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003chr data-start=\"1918\" data-end=\"1921\"\u003e\n\u003ch2 data-section-id=\"1ko8sy6\" data-start=\"1923\" data-end=\"1941\"\u003eTurnaround Time\u003c\/h2\u003e\n\u003cp data-start=\"1942\" data-end=\"2038\"\u003eTypically \u003cstrong data-start=\"1952\" data-end=\"1965\"\u003e3–6 weeks\u003c\/strong\u003e, depending on laboratory workflow and variant confirmation requirements.\u003c\/p\u003e\n\u003chr data-start=\"2040\" data-end=\"2043\"\u003e\n\u003ch2 data-section-id=\"1m78t1j\" data-start=\"2045\" data-end=\"2077\"\u003eWho Should Consider This Test\u003c\/h2\u003e\n\u003cul data-start=\"2079\" data-end=\"2353\"\u003e\n\u003cli data-section-id=\"976tbt\" data-start=\"2079\" data-end=\"2130\"\u003eChildren with unexplained developmental disorders\u003c\/li\u003e\n\u003cli data-section-id=\"1us1j9y\" data-start=\"2131\" data-end=\"2179\"\u003eIndividuals with suspected metabolic syndromes\u003c\/li\u003e\n\u003cli data-section-id=\"exensl\" data-start=\"2180\" data-end=\"2219\"\u003ePatients with multisystem involvement\u003c\/li\u003e\n\u003cli data-section-id=\"118pk3k\" data-start=\"2220\" data-end=\"2276\"\u003eFamilies with a history of inherited genetic disorders\u003c\/li\u003e\n\u003cli data-section-id=\"1w7o12e\" data-start=\"2277\" data-end=\"2353\"\u003eIndividuals advised by neurologists, geneticists, or metabolic specialists\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003chr data-start=\"2355\" data-end=\"2358\"\u003e\n\u003ch2 data-section-id=\"13frk3g\" data-start=\"2360\" data-end=\"2374\"\u003ePreparation\u003c\/h2\u003e\n\u003cp data-start=\"2375\" data-end=\"2429\"\u003eNo special preparation or fasting is usually required.\u003c\/p\u003e\n\u003chr data-start=\"2431\" data-end=\"2434\"\u003e\n\u003ch2 data-section-id=\"9ghvog\" data-start=\"2436\" data-end=\"2454\"\u003eImportant Notes\u003c\/h2\u003e\n\u003cul data-start=\"2456\" data-end=\"2727\"\u003e\n\u003cli data-section-id=\"1nk4y43\" data-start=\"2456\" data-end=\"2517\"\u003eGenetic counseling is recommended before and after testing.\u003c\/li\u003e\n\u003cli data-section-id=\"1fnl4ji\" data-start=\"2518\" data-end=\"2601\"\u003eA positive result confirms the presence of a genetic variant associated with CDG.\u003c\/li\u003e\n\u003cli data-section-id=\"1mh10qx\" data-start=\"2602\" data-end=\"2673\"\u003eA negative result does not completely exclude all genetic conditions.\u003c\/li\u003e\n\u003cli data-section-id=\"1198w53\" data-start=\"2674\" data-end=\"2727\"\u003eAdditional family testing may sometimes be advised.\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003chr data-start=\"2729\" data-end=\"2732\"\u003e\n\u003ch2 data-section-id=\"11fafqt\" data-start=\"2734\" data-end=\"2755\"\u003eSafety Information\u003c\/h2\u003e\n\u003cp data-start=\"2756\" data-end=\"2909\"\u003eThis is a non-invasive diagnostic genetic test performed on a blood sample and carries minimal risk associated with standard blood collection procedures.\u003c\/p\u003e\n\u003chr data-start=\"2911\" data-end=\"2914\"\u003e\n\u003ch2 data-section-id=\"1r8frcv\" data-start=\"2916\" data-end=\"2945\"\u003eFrequently Asked Questions\u003c\/h2\u003e\n\u003ch3 data-section-id=\"1e8qzl3\" data-start=\"2947\" data-end=\"2986\"\u003eIs this test suitable for newborns?\u003c\/h3\u003e\n\u003cp data-start=\"2987\" data-end=\"3078\"\u003eYes, the test can be performed in newborns, children, and adults when clinically indicated.\u003c\/p\u003e\n\u003ch3 data-section-id=\"aobfo5\" data-start=\"3080\" data-end=\"3124\"\u003eCan this test confirm all CDG disorders?\u003c\/h3\u003e\n\u003cp data-start=\"3125\" data-end=\"3259\"\u003eThe panel covers a broad range of known CDG-related genes, but extremely rare or newly discovered variants may not always be detected.\u003c\/p\u003e\n\u003ch3 data-section-id=\"1sttk63\" data-start=\"3261\" data-end=\"3299\"\u003eDo I need a doctor’s prescription?\u003c\/h3\u003e\n\u003cp data-start=\"3300\" data-end=\"3388\"\u003eUsually recommended by a geneticist, pediatrician, neurologist, or metabolic specialist.\u003c\/p\u003e\n\u003chr data-start=\"3390\" data-end=\"3393\"\u003e\n\u003ch2 data-section-id=\"off5mp\" data-start=\"3395\" data-end=\"3428\"\u003eAlternative Search Terms (SEO)\u003c\/h2\u003e\n\u003cul data-start=\"3430\" data-end=\"3623\"\u003e\n\u003cli data-section-id=\"y5ogx5\" data-start=\"3430\" data-end=\"3448\"\u003eCDG Genetic Test\u003c\/li\u003e\n\u003cli data-section-id=\"1wigvh1\" data-start=\"3449\" data-end=\"3490\"\u003eCongenital Glycosylation Disorder Panel\u003c\/li\u003e\n\u003cli data-section-id=\"1glm5rb\" data-start=\"3491\" data-end=\"3523\"\u003eGlycosylation Defect Gene Test\u003c\/li\u003e\n\u003cli data-section-id=\"lh4841\" data-start=\"3524\" data-end=\"3572\"\u003eInherited Metabolic Disorder Genetic Screening\u003c\/li\u003e\n\u003cli data-section-id=\"o603a5\" data-start=\"3573\" data-end=\"3602\"\u003eRare Genetic Disorder Panel\u003c\/li\u003e\n\u003cli data-section-id=\"1bo0xde\" data-start=\"3603\" data-end=\"3623\"\u003eNGS CDG Panel Test\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003chr data-start=\"3625\" data-end=\"3628\"\u003e\n\u003ch2 data-section-id=\"e7dr9q\" data-start=\"3630\" data-end=\"3653\"\u003eWhy Choose This Test\u003c\/h2\u003e\n\u003cul data-start=\"3655\" data-end=\"3826\"\u003e\n\u003cli data-section-id=\"10pjkg5\" data-start=\"3655\" data-end=\"3689\"\u003eComprehensive genetic evaluation\u003c\/li\u003e\n\u003cli data-section-id=\"wf6bq4\" data-start=\"3690\" data-end=\"3716\"\u003eHigh diagnostic accuracy\u003c\/li\u003e\n\u003cli data-section-id=\"1k6aa7e\" data-start=\"3717\" data-end=\"3742\"\u003eAdvanced NGS technology\u003c\/li\u003e\n\u003cli data-section-id=\"1x82zx0\" data-start=\"3743\" data-end=\"3783\"\u003eUseful for early intervention planning\u003c\/li\u003e\n\u003cli data-section-id=\"j2ymvy\" data-start=\"3784\" data-end=\"3826\"\u003eSupports personalized patient management\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003chr data-start=\"3828\" data-end=\"3831\"\u003e\n\u003ch2 data-section-id=\"1xw9p0k\" data-start=\"3833\" data-end=\"3840\"\u003eTags\u003c\/h2\u003e\n\u003cp data-start=\"3841\" data-end=\"3983\" data-is-last-node=\"\" data-is-only-node=\"\"\u003e#CDG #GeneticTesting #MetabolicDisorders #NGS #RareDiseases #InheritedDisorders #PediatricGenetics #Neurology #GeneticPanel #DiagnosticTesting\u003c\/p\u003e\n\u003c\/div\u003e\n\u003c\/div\u003e\n\u003c\/div\u003e\n\u003c\/div\u003e","brand":"Lifecell Diagnostics","offers":[{"title":"Default Title","offer_id":44007233028231,"sku":null,"price":15400.0,"currency_code":"INR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0691\/4241\/3447\/files\/06cfa389-e0af-4bea-893e-1f82aca2af3e.png?v=1779949578","url":"https:\/\/ourdermastore.com\/products\/congenital-disorders-of-glycosylation-gene-panel","provider":"Ourdermastore ","version":"1.0","type":"link"}