{"product_id":"biotidinase-deficiency-btd-gene-sequencing","title":"Biotidinase Deficiency ( BTD) gene sequencing","description":"\u003cp\u003eAmniotic Fluid\/ Chorionic Villus Sample\/Peripheral Venous Blood\/Cord blood,\/Extracted DNA\/Dry Blood Spot\u003c\/p\u003e\n\u003cdiv class=\"qMYqUG_convSearchResultHighlightRoot\"\u003e\n\u003cdiv class=\"\" data-turn-id-container=\"request-WEB:5a57e46c-9164-4f9f-bf5c-0fecec9b50ce-13\" data-is-intersecting=\"true\"\u003e\n\u003csection class=\"text-token-text-primary w-full focus:outline-none has-data-writing-block:pointer-events-none [\u0026amp;:has([data-writing-block])\u0026gt;*]:pointer-events-auto R6Vx5W_threadScrollVars scroll-mb-[calc(var(--scroll-root-safe-area-inset-bottom,0px)+var(--thread-response-height))] scroll-mt-[calc(var(--header-height)+min(200px,max(70px,20svh)))]\" dir=\"auto\" data-turn-id=\"request-WEB:5a57e46c-9164-4f9f-bf5c-0fecec9b50ce-13\" data-turn-id-container=\"request-WEB:5a57e46c-9164-4f9f-bf5c-0fecec9b50ce-13\" data-testid=\"conversation-turn-2\" data-scroll-anchor=\"false\" data-turn=\"assistant\"\u003e\n\u003cdiv class=\"text-base my-auto mx-auto pb-10 [--thread-content-margin:var(--thread-content-margin-xs,calc(var(--spacing)*4))] @w-sm\/main:[--thread-content-margin:var(--thread-content-margin-sm,calc(var(--spacing)*6))] @w-lg\/main:[--thread-content-margin:var(--thread-content-margin-lg,calc(var(--spacing)*16))] px-(--thread-content-margin)\"\u003e\n\u003cdiv class=\"[--thread-content-max-width:40rem] @w-lg\/main:[--thread-content-max-width:48rem] mx-auto max-w-(--thread-content-max-width) flex-1 group\/turn-messages focus-visible:outline-hidden relative flex w-full min-w-0 flex-col agent-turn\"\u003e\n\u003cdiv class=\"flex max-w-full flex-col gap-4 grow\"\u003e\n\u003cdiv data-message-author-role=\"assistant\" data-message-id=\"6774d6f2-5ad1-4f7f-bc45-673a16e2d5df\" 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\u003ch2 data-section-id=\"1qsdx3x\" data-start=\"0\" data-end=\"47\"\u003eBiotinidase Deficiency (BTD) Gene Sequencing\u003c\/h2\u003e\n\u003cp data-start=\"49\" data-end=\"335\"\u003e\u003cstrong data-start=\"49\" data-end=\"75\"\u003eBiotinidase Deficiency\u003c\/strong\u003e is a rare inherited metabolic disorder caused by mutations in the \u003cstrong data-start=\"142\" data-end=\"154\"\u003eBTD gene\u003c\/strong\u003e. This condition affects the body’s ability to recycle \u003cstrong data-start=\"209\" data-end=\"232\"\u003ebiotin (Vitamin B7)\u003c\/strong\u003e, an essential vitamin required for healthy metabolism, nervous system function, skin, and hair health.\u003c\/p\u003e\n\u003ch3 data-section-id=\"so7jdh\" data-start=\"337\" data-end=\"363\"\u003eWhy is this test done?\u003c\/h3\u003e\n\u003cp data-start=\"364\" data-end=\"471\"\u003eBTD gene sequencing helps identify mutations associated with biotinidase deficiency and is recommended for:\u003c\/p\u003e\n\u003cul data-start=\"473\" data-end=\"732\"\u003e\n\u003cli data-section-id=\"8xitd0\" data-start=\"473\" data-end=\"525\"\u003eNewborns with abnormal metabolic screening results\u003c\/li\u003e\n\u003cli data-section-id=\"6tguqc\" data-start=\"526\" data-end=\"602\"\u003eIndividuals with seizures, developmental delay, hearing loss, or skin rash\u003c\/li\u003e\n\u003cli data-section-id=\"ad7q07\" data-start=\"603\" data-end=\"638\"\u003eUnexplained neurological symptoms\u003c\/li\u003e\n\u003cli data-section-id=\"1tdynf1\" data-start=\"639\" data-end=\"681\"\u003eFamily history of biotinidase deficiency\u003c\/li\u003e\n\u003cli data-section-id=\"4180vq\" data-start=\"682\" data-end=\"732\"\u003eCarrier screening for couples planning pregnancy\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"1rynk3p\" data-start=\"734\" data-end=\"772\"\u003eSymptoms of Biotinidase Deficiency\u003c\/h3\u003e\n\u003cp data-start=\"773\" data-end=\"827\"\u003eSymptoms may vary from mild to severe and can include:\u003c\/p\u003e\n\u003cul data-start=\"829\" data-end=\"1011\"\u003e\n\u003cli data-section-id=\"fx0un0\" data-start=\"829\" data-end=\"839\"\u003eSeizures\u003c\/li\u003e\n\u003cli data-section-id=\"167sl03\" data-start=\"840\" data-end=\"870\"\u003eWeak muscle tone (hypotonia)\u003c\/li\u003e\n\u003cli data-section-id=\"1yfqfkl\" data-start=\"871\" data-end=\"895\"\u003eBreathing difficulties\u003c\/li\u003e\n\u003cli data-section-id=\"o2ad7o\" data-start=\"896\" data-end=\"918\"\u003eHair loss (alopecia)\u003c\/li\u003e\n\u003cli data-section-id=\"1l9t7pl\" data-start=\"919\" data-end=\"932\"\u003eSkin rashes\u003c\/li\u003e\n\u003cli data-section-id=\"za4koz\" data-start=\"933\" data-end=\"954\"\u003eDevelopmental delay\u003c\/li\u003e\n\u003cli data-section-id=\"1fqjs1j\" data-start=\"955\" data-end=\"983\"\u003eVision or hearing problems\u003c\/li\u003e\n\u003cli data-section-id=\"1dc147m\" data-start=\"984\" data-end=\"1011\"\u003eCoordination difficulties\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"zmlq2s\" data-start=\"1013\" data-end=\"1031\"\u003eAbout the Test\u003c\/h3\u003e\n\u003cul data-start=\"1032\" data-end=\"1240\"\u003e\n\u003cli data-section-id=\"1aag9dd\" data-start=\"1032\" data-end=\"1067\"\u003e\n\u003cstrong data-start=\"1034\" data-end=\"1054\"\u003eSample Required:\u003c\/strong\u003e Blood sample\u003c\/li\u003e\n\u003cli data-section-id=\"18nhos4\" data-start=\"1068\" data-end=\"1134\"\u003e\n\u003cstrong data-start=\"1070\" data-end=\"1081\"\u003eMethod:\u003c\/strong\u003e Next Generation Sequencing (NGS) \/ Sanger Sequencing\u003c\/li\u003e\n\u003cli data-section-id=\"fpdum8\" data-start=\"1135\" data-end=\"1164\"\u003e\n\u003cstrong data-start=\"1137\" data-end=\"1155\"\u003eGene Analyzed:\u003c\/strong\u003e BTD gene\u003c\/li\u003e\n\u003cli data-section-id=\"1lo2n3j\" data-start=\"1165\" data-end=\"1240\"\u003e\n\u003cstrong data-start=\"1167\" data-end=\"1179\"\u003ePurpose:\u003c\/strong\u003e Detect pathogenic mutations linked to biotinidase deficiency\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"1mshcmf\" data-start=\"1242\" data-end=\"1273\"\u003eBenefits of Early Detection\u003c\/h3\u003e\n\u003cp data-start=\"1274\" data-end=\"1440\"\u003eEarly diagnosis allows timely treatment with \u003cstrong data-start=\"1319\" data-end=\"1345\"\u003ebiotin supplementation\u003c\/strong\u003e, which can prevent irreversible neurological damage and significantly improve quality of life.\u003c\/p\u003e\n\u003ch3 data-section-id=\"1kncwmz\" data-start=\"1442\" data-end=\"1476\"\u003eWho should consider this test?\u003c\/h3\u003e\n\u003cul data-start=\"1477\" data-end=\"1640\"\u003e\n\u003cli data-section-id=\"wta2zt\" data-start=\"1477\" data-end=\"1518\"\u003eInfants with positive newborn screening\u003c\/li\u003e\n\u003cli data-section-id=\"ag1lue\" data-start=\"1519\" data-end=\"1568\"\u003eChildren with unexplained neurological symptoms\u003c\/li\u003e\n\u003cli data-section-id=\"le0zxq\" data-start=\"1569\" data-end=\"1603\"\u003eSiblings of affected individuals\u003c\/li\u003e\n\u003cli data-section-id=\"12qbtcp\" data-start=\"1604\" data-end=\"1640\"\u003eCouples seeking genetic counseling\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"owkoul\" data-start=\"1642\" data-end=\"1661\"\u003eTurnaround Time\u003c\/h3\u003e\n\u003cp data-start=\"1662\" data-end=\"1720\"\u003eTypically \u003cstrong data-start=\"1672\" data-end=\"1685\"\u003e2–4 weeks\u003c\/strong\u003e, depending on laboratory workflow.\u003c\/p\u003e\n\u003ch3 data-section-id=\"16153u4\" data-start=\"1722\" data-end=\"1740\"\u003eInterpretation\u003c\/h3\u003e\n\u003cp data-start=\"1741\" data-end=\"1789\"\u003eResults should always be interpreted along with:\u003c\/p\u003e\n\u003cul data-start=\"1790\" data-end=\"1888\"\u003e\n\u003cli data-section-id=\"1t20nip\" data-start=\"1790\" data-end=\"1809\"\u003eClinical findings\u003c\/li\u003e\n\u003cli data-section-id=\"ovkmbk\" data-start=\"1810\" data-end=\"1834\"\u003eEnzyme activity levels\u003c\/li\u003e\n\u003cli data-section-id=\"1fts4po\" data-start=\"1835\" data-end=\"1851\"\u003eFamily history\u003c\/li\u003e\n\u003cli data-section-id=\"17rbk20\" data-start=\"1852\" data-end=\"1888\"\u003eGenetic counseling recommendations\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp data-start=\"1890\" data-end=\"2019\" data-is-last-node=\"\" data-is-only-node=\"\"\u003eEarly genetic testing plays a crucial role in preventing long-term complications and supporting personalized treatment decisions.\u003c\/p\u003e\n\u003c\/div\u003e\n\u003c\/div\u003e\n\u003c\/div\u003e\n\u003c\/div\u003e\n\u003cdiv class=\"z-0 flex min-h-[46px] justify-start\"\u003e\u003cbr\u003e\u003c\/div\u003e\n\u003cdiv class=\"mt-3 w-full empty:hidden\"\u003e\n\u003cdiv class=\"text-center\"\u003e\u003cbr\u003e\u003c\/div\u003e\n\u003c\/div\u003e\n\u003c\/div\u003e\n\u003c\/div\u003e\n\u003c\/section\u003e\n\u003c\/div\u003e\n\u003c\/div\u003e","brand":"Lifecell Diagnostics","offers":[{"title":"Default Title","offer_id":44007208616071,"sku":null,"price":6930.0,"currency_code":"INR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0691\/4241\/3447\/files\/d49ee5fa-bea8-4148-90ef-c2d6ef4df6d4.png?v=1779700050","url":"https:\/\/ourdermastore.com\/products\/biotidinase-deficiency-btd-gene-sequencing","provider":"Ourdermastore ","version":"1.0","type":"link"}