{"product_id":"cockayne-syndrome-gene-panel","title":"Cockayne syndrome gene panel","description":"\u003cp\u003eAmniotic Fluid\/ Chorionic Villus Sample\/Peripheral Venous Blood\/Cord blood,\/Extracted DNA\/Dry Blood Spot\u003c\/p\u003e\n\u003ch2 data-section-id=\"695vfc\" data-start=\"0\" data-end=\"31\"\u003eCockayne Syndrome Gene Panel\u003c\/h2\u003e\n\u003ch3 data-section-id=\"kxdg3b\" data-start=\"33\" data-end=\"46\"\u003eTest Name\u003c\/h3\u003e\n\u003cp data-start=\"47\" data-end=\"115\"\u003e\u003cstrong data-start=\"47\" data-end=\"115\"\u003eCockayne Syndrome Gene Panel by NGS (Next-Generation Sequencing)\u003c\/strong\u003e\u003c\/p\u003e\n\u003ch3 data-section-id=\"m8tbs\" data-start=\"117\" data-end=\"132\"\u003eSample Type\u003c\/h3\u003e\n\u003cul data-start=\"133\" data-end=\"164\"\u003e\n\u003cli data-section-id=\"1fhinwf\" data-start=\"133\" data-end=\"164\"\u003ePeripheral Blood \/ EDTA Blood\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"1o84rm7\" data-start=\"166\" data-end=\"181\"\u003eTest Method\u003c\/h3\u003e\n\u003cul data-start=\"182\" data-end=\"284\"\u003e\n\u003cli data-section-id=\"170mld\" data-start=\"182\" data-end=\"229\"\u003eNGS Sequencing with bioinformatics analysis\u003c\/li\u003e\n\u003cli data-section-id=\"bcjcou\" data-start=\"230\" data-end=\"284\"\u003eOptional Sanger confirmation for pathogenic variants\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"e88y7y\" data-start=\"286\" data-end=\"309\"\u003ePurpose of the Test\u003c\/h3\u003e\n\u003cp data-start=\"310\" data-end=\"477\"\u003eThe Cockayne Syndrome Gene Panel is used to identify genetic mutations associated with \u003cstrong data-start=\"397\" data-end=\"423\"\u003eCockayne Syndrome (CS)\u003c\/strong\u003e and related DNA repair disorders. This test helps in:\u003c\/p\u003e\n\u003cul data-start=\"478\" data-end=\"620\"\u003e\n\u003cli data-section-id=\"1tlex4\" data-start=\"478\" data-end=\"495\"\u003eEarly diagnosis\u003c\/li\u003e\n\u003cli data-section-id=\"fy2vm7\" data-start=\"496\" data-end=\"542\"\u003eConfirmation of suspected genetic conditions\u003c\/li\u003e\n\u003cli data-section-id=\"melszc\" data-start=\"543\" data-end=\"562\"\u003eCarrier screening\u003c\/li\u003e\n\u003cli data-section-id=\"1h9rwdu\" data-start=\"563\" data-end=\"583\"\u003eGenetic counseling\u003c\/li\u003e\n\u003cli data-section-id=\"1eh2j47\" data-start=\"584\" data-end=\"620\"\u003ePrenatal or family risk assessment\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"1mp9w3g\" data-start=\"622\" data-end=\"649\"\u003eGenes Commonly Included\u003c\/h3\u003e\n\u003cul data-start=\"650\" data-end=\"775\"\u003e\n\u003cli data-section-id=\"1rfm5x6\" data-start=\"650\" data-end=\"667\"\u003e\u003cstrong data-start=\"652\" data-end=\"667\"\u003eERCC6 (CSB)\u003c\/strong\u003e\u003c\/li\u003e\n\u003cli data-section-id=\"165ifo7\" data-start=\"668\" data-end=\"685\"\u003e\u003cstrong data-start=\"670\" data-end=\"685\"\u003eERCC8 (CSA)\u003c\/strong\u003e\u003c\/li\u003e\n\u003cli data-section-id=\"1mpqpx9\" data-start=\"686\" data-end=\"775\"\u003eAdditional related DNA repair genes may also be analyzed depending on the panel design.\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"1l4c54e\" data-start=\"777\" data-end=\"801\"\u003eClinical Indications\u003c\/h3\u003e\n\u003cp data-start=\"802\" data-end=\"835\"\u003eRecommended for individuals with:\u003c\/p\u003e\n\u003cul data-start=\"836\" data-end=\"1026\"\u003e\n\u003cli data-section-id=\"xai6k9\" data-start=\"836\" data-end=\"852\"\u003eGrowth failure\u003c\/li\u003e\n\u003cli data-section-id=\"za4koz\" data-start=\"853\" data-end=\"874\"\u003eDevelopmental delay\u003c\/li\u003e\n\u003cli data-section-id=\"17v38rc\" data-start=\"875\" data-end=\"889\"\u003eMicrocephaly\u003c\/li\u003e\n\u003cli data-section-id=\"13aed1l\" data-start=\"890\" data-end=\"908\"\u003ePhotosensitivity\u003c\/li\u003e\n\u003cli data-section-id=\"kmkcwk\" data-start=\"909\" data-end=\"935\"\u003ePremature aging features\u003c\/li\u003e\n\u003cli data-section-id=\"pmkzx3\" data-start=\"936\" data-end=\"964\"\u003eHearing or vision problems\u003c\/li\u003e\n\u003cli data-section-id=\"t7mbiy\" data-start=\"965\" data-end=\"993\"\u003eNeurological abnormalities\u003c\/li\u003e\n\u003cli data-section-id=\"rffrpn\" data-start=\"994\" data-end=\"1026\"\u003eSuspected DNA repair disorders\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"1bgf6w4\" data-start=\"1028\" data-end=\"1074\"\u003eSymptoms Associated with Cockayne Syndrome\u003c\/h3\u003e\n\u003cul data-start=\"1075\" data-end=\"1304\"\u003e\n\u003cli data-section-id=\"13dtzdx\" data-start=\"1075\" data-end=\"1108\"\u003ePoor growth and low weight gain\u003c\/li\u003e\n\u003cli data-section-id=\"19sck67\" data-start=\"1109\" data-end=\"1143\"\u003eDelayed developmental milestones\u003c\/li\u003e\n\u003cli data-section-id=\"r4npxk\" data-start=\"1144\" data-end=\"1169\"\u003eSensitivity to sunlight\u003c\/li\u003e\n\u003cli data-section-id=\"ueodc3\" data-start=\"1170\" data-end=\"1204\"\u003eProgressive neurological decline\u003c\/li\u003e\n\u003cli data-section-id=\"1atye11\" data-start=\"1205\" data-end=\"1236\"\u003eVision and hearing impairment\u003c\/li\u003e\n\u003cli data-section-id=\"1pm4b5y\" data-start=\"1237\" data-end=\"1260\"\u003eThin, aged appearance\u003c\/li\u003e\n\u003cli data-section-id=\"2zvcc2\" data-start=\"1261\" data-end=\"1304\"\u003eDifficulty walking or coordination issues\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"owkoul\" data-start=\"1306\" data-end=\"1325\"\u003eTurnaround Time\u003c\/h3\u003e\n\u003cul data-start=\"1326\" data-end=\"1355\"\u003e\n\u003cli data-section-id=\"hgs4bb\" data-start=\"1326\" data-end=\"1355\"\u003eApproximately \u003cstrong data-start=\"1342\" data-end=\"1355\"\u003e2–4 weeks\u003c\/strong\u003e\n\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"16153u4\" data-start=\"1357\" data-end=\"1375\"\u003eInterpretation\u003c\/h3\u003e\n\u003cul data-start=\"1376\" data-end=\"1510\"\u003e\n\u003cli data-section-id=\"vlq1ln\" data-start=\"1376\" data-end=\"1426\"\u003eDetects pathogenic or likely pathogenic variants\u003c\/li\u003e\n\u003cli data-section-id=\"fog2mj\" data-start=\"1427\" data-end=\"1510\"\u003eResults should be interpreted along with clinical findings and genetic counseling\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"cd82tg\" data-start=\"1512\" data-end=\"1536\"\u003eBenefits of the Test\u003c\/h3\u003e\n\u003cul data-start=\"1537\" data-end=\"1681\"\u003e\n\u003cli data-section-id=\"4usjrz\" data-start=\"1537\" data-end=\"1567\"\u003eAccurate molecular diagnosis\u003c\/li\u003e\n\u003cli data-section-id=\"39vdxs\" data-start=\"1568\" data-end=\"1600\"\u003eHelps guide patient management\u003c\/li\u003e\n\u003cli data-section-id=\"17qnpto\" data-start=\"1601\" data-end=\"1637\"\u003eSupports family planning decisions\u003c\/li\u003e\n\u003cli data-section-id=\"2de8l7\" data-start=\"1638\" data-end=\"1681\"\u003eEnables early intervention and monitoring\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"ik3d6w\" data-start=\"1683\" data-end=\"1702\"\u003eRecommended For\u003c\/h3\u003e\n\u003cul data-start=\"1703\" data-end=\"1880\"\u003e\n\u003cli data-section-id=\"1b8xkcf\" data-start=\"1703\" data-end=\"1764\"\u003ePediatric patients with unexplained developmental disorders\u003c\/li\u003e\n\u003cli data-section-id=\"17bqwxl\" data-start=\"1765\" data-end=\"1833\"\u003eIndividuals with suspected hereditary neurodegenerative conditions\u003c\/li\u003e\n\u003cli data-section-id=\"1scwqxe\" data-start=\"1834\" data-end=\"1880\"\u003eFamilies with a history of Cockayne Syndrome\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp data-start=\"1891\" data-end=\"2002\" data-is-last-node=\"\" data-is-only-node=\"\"\u003e \u003c\/p\u003e","brand":"Lifecell Diagnostics","offers":[{"title":"Default Title","offer_id":44007230570631,"sku":null,"price":9800.0,"currency_code":"INR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0691\/4241\/3447\/files\/7dbba537-7a48-44dd-b734-78b1522d59f3.png?v=1779342693","url":"https:\/\/ourdermastore.com\/products\/cockayne-syndrome-gene-panel","provider":"Ourdermastore ","version":"1.0","type":"link"}