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Background information summarizes disease characteristics, incidence, inheritance, tested variants, sensitivity, specificity, limitations, and laboratory 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does the test interpretation indicate for the patient?","Question",{"text":63,"@type":64},"The report states that one pathogenic variant, c.1421+1G>C, was detected in the HEXA gene, indicating the patient is at least a carrier of Tay-Sachs disease.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"Which variants were tested and what were the results shown?",{"text":68,"@type":64},"The report indicates multiple variants were tested, including a pathogenic allele c.1421+1G>C and an allele labeled as negative for the second allele.",{"name":70,"@type":61,"acceptedAnswer":71},"What recommendations are provided after a positive carrier result?",{"text":72,"@type":64},"The report recommends offering testing to at-risk family members to determine carrier status for the identified variant, offering carrier screening to the reproductive partner, and seeking genetic counseling.","https://schema.org",{"og:url":32,"og:type":75,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":77,"canonical":32},"index,follow",{"doc_id":79,"site_id":7},399896,1790776932,{"code":4,"msg":82,"data":83},"success",[84,88,92,96,101,106,110,114,119,122,126],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":85,"show_sort_weight":86,"slug":87},"Story & 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84108 UNITED STATES\u003Cbr>Physician: Doctor, Example | Patient: Patient, Example\u003Cbr>DOB 1982\u003Cbr>Gender: Male\u003Cbr>Patient Identifiers: 01234567890ABCD, 012345\u003Cbr>Visit Number (FIN): 01234567890ABCD\u003Cbr>Collection Date: 00/00/0000 00:00 |\n| --- | --- |\n\nTay-Sachs Disease (HEXA), 7 Variants  \nARUP test code 0051428  \n\n| Tay-Sachs Disease (HEXA), Specimen | Whole Blood |  |\n| --- | --- | --- |\n| Tay-Sachs Disease (HEXA), Allele 1 | c .1421+1G>C | * |\n| Tay-Sachs Disease (HEXA), Allele 2 | Negative |  |\n\nTay-Sachs Disease (HEXA), Interpretation See Note  \nIndication for testing: Carrier screening or diagnostic testing for Tay-Sachs disease .  \nPositive: One pathogenic variant, c.1421+1G>C, was detected in the HEXA gene; therefore, this individual is at least a carrier of Tay-Sachs disease . At-risk family members should be offered testing to determine carrier status for the identified variant . This individual's reproductive partner should be offered carrier screening for the disorder . Genetic counseling is recommended .  \nThis result has been reviewed and approved by   \nH=High, L=Low, *=Abnormal, C=Critical  \nPatient: Patient, Example  \nARUP Accession: 26-155-103490  \nPatient Identifiers: 01234567890ABCD, 012345 Visit Number (FIN): 01234567890ABCD  \nPage 1 of 2 | Printed: 6/10/2026 10:03:28 AM  \nPatient Report |FINAL  \nBACKGROUND INFORMATION: Tay-Sachs Disease (HEXA), 7 Variants  \nCHARACTERISTICS: Tay-Sachs disease (TSD) is a lysosomal storage disorder caused by the accumulation of glycosphingolipid (GM2) ganglioside in the brain and nerve cells . The classic phenotype is characterized by loss of motor skills beginning at three to six months of age and progresses to blindness, seizures, developmental regression, and eventual death in childhood . Subacute juvenile TSD typically has onset after age two with symptoms of abnormal gait, dysarthria, cognitive decline, and developmental regression . Symptoms progress to includespasticity, dysphagia, seizures, and death typically occurring within the second decade of life . Late-onset TSD exhibits onset in the teenage and young adult years and slower disease progression . Late-onset TSD is associated with variable neurological findings, including progressive dystonia, spinocerebellar degeneration, motor neuron disease, and psychiatric manifestations .  \nINCIDENCE: 1 in 3000 Ashkenazi Jewish individuals .  \nINHERITANCE: Autosomal recessive .  \nCAUSE: HEXA gene pathogenic variants .  \nVARIANTS TESTED: Four pathogenic 7.6kb del, c.1073+1G>A,  \np .Y427Ifs (c.1274_ 1277dup TATC), c.1421+1G>C; one mild pathogenic p .G269S (c.805G>A); and two pseudodeficiency alleles p .R247W (c.739C>T) and p .R249W (c.745C>T) .  \nCLINICAL SENSITIVITY: 94 percent in Ashkenazi Jewish individuals, 59 percent in other ethnicities .  \nMETHODOLOGY: Polymerase chain reaction (PCR) and fluorescence monitoring .  \nANALYTICAL SENSITIVITY AND SPECIFICITY: Greater than 99 percent . LIMITATIONS: HEXA variants other than those specified above will not be detected . Diagnostic errors can occur due to rare sequence variations .  \nThis test was developed and its performance characteristics determined by ARUP Laboratories . It has not been cleared or approved by the U .S . Food and Drug Administration . This test was performed in a CLIA-certified laboratory and is intended for clinical purposes .  \nCounseling and informed consent are recommended for genetic testing . Consent forms are available online .  \n\n| VERIFIED/REPORTED DATES |  |  |  |  |\n| --- | --- | --- | --- | --- |\n| Procedure | Accession | Collected | Received | Verified/Reported |\n| Tay-Sachs Disease (HEXA), Specimen | 26-155-103490 | 00/00/0000 00:00 | 00/00/0000 00:00 | 00/00/0000 00:00 |\n| Tay-Sachs Disease (HEXA), Allele 1 | 26-155-103490 | 00/00/0000 00:00 | 00/00/0000 00:00 | 00/00/0000 00:00 |\n| Tay-Sachs Disease (HEXA), Allele 2 | 26-155-103490 | 00/00/0000 00:00 | 00/","cbCaiu9qmatqoyQr","https://ap.wps.com/l/cbCaiu9qmatqoyQr","pdf",204175,"English","# Tay-Sachs Disease (HEXA), 7 Variants\n## Test Results and Interpretation\n## Background Information and Methodology\n## Verified/Reported Dates","[{\"question\":\"What does the test interpretation indicate for the patient?\",\"answer\":\"The report states that one pathogenic variant, c.1421+1G\\u003eC, was detected in the HEXA gene, indicating the patient is at least a carrier of Tay-Sachs disease.\"},{\"question\":\"Which variants were tested and what were the results shown?\",\"answer\":\"The report indicates multiple variants were tested, including a pathogenic allele c.1421+1G\\u003eC and an allele labeled as negative for the second allele.\"},{\"question\":\"What recommendations are provided after a positive carrier result?\",\"answer\":\"The report recommends offering testing to at-risk family members to determine carrier status for the identified variant, offering carrier screening to the reproductive partner, and seeking genetic counseling.\"}]","Tay-Sachs Disease (HEXA), 7 Variants - Patient Report - FINAL | PDF",1790504865]