{"product_id":"charcot-marie-tooth-1a-hnpp-pmp22-cox10-tekt3-deletion-duplication-analysis","title":"Charcot-Marie-Tooth 1A\/HNPP (PMP22, COX10, TEKT3) deletion\/duplication analysis","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=\"1yn31m9\" data-start=\"0\" data-end=\"82\"\u003eCharcot-Marie-Tooth 1A\/HNPP (PMP22, COX10, TEKT3) Deletion\/Duplication Analysis\u003c\/h2\u003e\n\u003cp data-start=\"84\" data-end=\"493\"\u003e\u003cstrong data-start=\"84\" data-end=\"101\"\u003eTest Overview\u003c\/strong\u003e\u003cbr data-start=\"101\" data-end=\"104\"\u003eCharcot-Marie-Tooth disease type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) are inherited peripheral nerve disorders commonly associated with changes in the \u003cstrong data-start=\"297\" data-end=\"306\"\u003ePMP22\u003c\/strong\u003e gene. This genetic test detects large deletions or duplications involving the \u003cstrong data-start=\"385\" data-end=\"412\"\u003ePMP22, COX10, and TEKT3\u003c\/strong\u003e genes to help diagnose these neuropathies. \u003cspan class=\"\" data-state=\"closed\"\u003e\u003c\/span\u003e\u003c\/p\u003e\n\u003ch3 data-section-id=\"1238hwq\" data-start=\"495\" data-end=\"520\"\u003eWhy This Test Is Done\u003c\/h3\u003e\n\u003cp data-start=\"521\" data-end=\"567\"\u003eThis test is recommended for individuals with:\u003c\/p\u003e\n\u003cul data-start=\"568\" data-end=\"873\"\u003e\n\u003cli data-section-id=\"pfcoip\" data-start=\"568\" data-end=\"625\"\u003eProgressive muscle weakness in the feet, legs, or hands\u003c\/li\u003e\n\u003cli data-section-id=\"6pwd4t\" data-start=\"626\" data-end=\"668\"\u003eFrequent numbness or tingling sensations\u003c\/li\u003e\n\u003cli data-section-id=\"1pobd9a\" data-start=\"669\" data-end=\"721\"\u003eFoot deformities such as high arches or hammertoes\u003c\/li\u003e\n\u003cli data-section-id=\"u0fn4r\" data-start=\"722\" data-end=\"760\"\u003eDifficulty walking or balance issues\u003c\/li\u003e\n\u003cli data-section-id=\"1gun7xv\" data-start=\"761\" data-end=\"824\"\u003eRecurrent nerve palsies triggered by pressure or minor injury\u003c\/li\u003e\n\u003cli data-section-id=\"1qd0fcc\" data-start=\"825\" data-end=\"873\"\u003eFamily history of hereditary neuropathy or CMT\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"1xast06\" data-start=\"875\" data-end=\"900\"\u003eClinical Significance\u003c\/h3\u003e\n\u003cul data-start=\"901\" data-end=\"1350\"\u003e\n\u003cli data-section-id=\"1jc4mug\" data-start=\"901\" data-end=\"1053\"\u003e\n\u003cstrong data-start=\"903\" data-end=\"924\"\u003ePMP22 duplication\u003c\/strong\u003e is strongly associated with \u003cstrong data-start=\"953\" data-end=\"962\"\u003eCMT1A\u003c\/strong\u003e, the most common inherited demyelinating neuropathy. \u003cspan class=\"\" data-state=\"closed\"\u003e\u003c\/span\u003e\n\u003c\/li\u003e\n\u003cli data-section-id=\"1ci48zt\" data-start=\"1054\" data-end=\"1206\"\u003e\n\u003cstrong data-start=\"1056\" data-end=\"1074\"\u003ePMP22 deletion\u003c\/strong\u003e is linked to \u003cstrong data-start=\"1088\" data-end=\"1096\"\u003eHNPP\u003c\/strong\u003e, a disorder causing recurrent focal nerve palsies and sensory symptoms. \u003cspan class=\"\" data-state=\"closed\"\u003e\u003c\/span\u003e\n\u003c\/li\u003e\n\u003cli data-section-id=\"12c9etf\" data-start=\"1207\" data-end=\"1350\"\u003eThe analysis may also evaluate neighboring genes such as \u003cstrong data-start=\"1266\" data-end=\"1275\"\u003eCOX10\u003c\/strong\u003e and \u003cstrong data-start=\"1280\" data-end=\"1289\"\u003eTEKT3\u003c\/strong\u003e, which can be involved in larger chromosomal rearrangements.\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"1uvv5qj\" data-start=\"1352\" data-end=\"1367\"\u003eMethodology\u003c\/h3\u003e\n\u003cp data-start=\"1368\" data-end=\"1443\"\u003eTesting is typically performed using advanced molecular techniques such as:\u003c\/p\u003e\n\u003cul data-start=\"1444\" data-end=\"1581\"\u003e\n\u003cli data-section-id=\"1hdkf28\" data-start=\"1444\" data-end=\"1501\"\u003eMLPA (Multiplex Ligation-dependent Probe Amplification)\u003c\/li\u003e\n\u003cli data-section-id=\"ocv0ev\" data-start=\"1502\" data-end=\"1540\"\u003eCopy Number Variation (CNV) analysis\u003c\/li\u003e\n\u003cli data-section-id=\"1ouufgd\" data-start=\"1541\" data-end=\"1581\"\u003ePCR-based deletion\/duplication studies\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp data-start=\"1583\" data-end=\"1691\"\u003eThese methods help identify abnormal copy numbers of the target genes. \u003cspan class=\"\" data-state=\"closed\"\u003e\u003c\/span\u003e\u003c\/p\u003e\n\u003ch3 data-section-id=\"11twy89\" data-start=\"1693\" data-end=\"1712\"\u003eSample Required\u003c\/h3\u003e\n\u003cul data-start=\"1713\" data-end=\"1738\"\u003e\n\u003cli data-section-id=\"3w2pzc\" data-start=\"1713\" data-end=\"1738\"\u003ePeripheral blood sample\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"1p5q70f\" data-start=\"1740\" data-end=\"1755\"\u003ePreparation\u003c\/h3\u003e\n\u003cul data-start=\"1756\" data-end=\"1801\"\u003e\n\u003cli data-section-id=\"4ry0yz\" data-start=\"1756\" data-end=\"1801\"\u003eNo fasting or special preparation required.\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"16153u4\" data-start=\"1803\" data-end=\"1821\"\u003eInterpretation\u003c\/h3\u003e\n\u003cul data-start=\"1822\" data-end=\"2116\"\u003e\n\u003cli data-section-id=\"e97ev5\" data-start=\"1822\" data-end=\"1922\"\u003e\n\u003cstrong data-start=\"1824\" data-end=\"1844\"\u003ePositive Result:\u003c\/strong\u003e Indicates a pathogenic deletion or duplication associated with CMT1A or HNPP.\u003c\/li\u003e\n\u003cli data-section-id=\"sz5rh4\" data-start=\"1923\" data-end=\"2116\"\u003e\n\u003cstrong data-start=\"1925\" data-end=\"1945\"\u003eNegative Result:\u003c\/strong\u003e Does not completely rule out hereditary neuropathy, as other gene mutations may be involved. Further genetic testing may be advised. \u003cspan class=\"\" data-state=\"closed\"\u003e\u003c\/span\u003e\n\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"168hjsr\" data-start=\"2118\" data-end=\"2152\"\u003eWho Should Consider This Test?\u003c\/h3\u003e\n\u003cul data-start=\"2153\" data-end=\"2368\"\u003e\n\u003cli data-section-id=\"5rf5i\" data-start=\"2153\" data-end=\"2205\"\u003eIndividuals with unexplained peripheral neuropathy\u003c\/li\u003e\n\u003cli data-section-id=\"do5o7p\" data-start=\"2206\" data-end=\"2255\"\u003ePatients with abnormal nerve conduction studies\u003c\/li\u003e\n\u003cli data-section-id=\"1t6m5bp\" data-start=\"2256\" data-end=\"2299\"\u003ePeople with family history of CMT or HNPP\u003c\/li\u003e\n\u003cli data-section-id=\"nx4uxb\" data-start=\"2300\" data-end=\"2368\"\u003eIndividuals experiencing recurrent pressure-related nerve injuries\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"owkoul\" data-start=\"2370\" data-end=\"2389\"\u003eTurnaround Time\u003c\/h3\u003e\n\u003cul data-start=\"2390\" data-end=\"2439\"\u003e\n\u003cli data-section-id=\"pbxha\" data-start=\"2390\" data-end=\"2439\"\u003eUsually 2–4 weeks, depending on the laboratory.\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 data-section-id=\"lgtwr4\" data-start=\"2441\" data-end=\"2459\"\u003eImportant Note\u003c\/h3\u003e\n\u003cp data-start=\"2460\" data-end=\"2609\"\u003eGenetic counseling is recommended before and after testing to help understand the results, inheritance patterns, and implications for family members.\u003c\/p\u003e","brand":"Lifecell Diagnostics","offers":[{"title":"Default Title","offer_id":44007224934535,"sku":null,"price":6930.0,"currency_code":"INR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0691\/4241\/3447\/files\/6bf7897c-7020-4678-b2a4-01671b9f3099.png?v=1779875543","url":"https:\/\/ourdermastore.com\/products\/charcot-marie-tooth-1a-hnpp-pmp22-cox10-tekt3-deletion-duplication-analysis","provider":"Ourdermastore ","version":"1.0","type":"link"}