BEUDAMED
    FDA Adverse Event Malfunction Summary report: N

    MAYO CLINIC GENEGUIDE HELIX

    MDR report key: 9865452 · Received March 20, 2020

    Report

    Report Number
    MW5093889
    Event Type
    Malfunction
    Date Received
    March 20, 2020
    Date of Event
    February 8, 2019
    Report Date
    March 18, 2020
    Manufacturer
    UNK
    Product Code
    PTA
    Product Problem
    Yes
    Report Source
    Voluntary report
    Reporter Location
    CA, US
    Reporter Occupation
    PATIENT

    Narratives

    Description of Event or Problem · 1

    I THINK THE LINK WILL BE REMOVED FROM MAUDE; HOWEVER, IN TERMS OF PROVIDING INFO TO THE FDA, THERE IS ADD'L INFO AVAILABLE HERE: (B)(6). I ALSO UPLOADED DATA TO MY PERSONAL GENOME PROJECT PAGE ON (B)(6) 2019: (B)(6). I THINK MY CONCERN IS TECHNICALLY NOT AN ERROR, BUT I THINK IT IS IMPORTANT FOR CONSUMERS: I AM A CYSTIC FIBROSIS CARRIER (AS DEFINE BY CLINVAR, THE CTFR2 DATABASE, ETC.) BUT MY VARIANT WAS NOT ABOVE THOSE LISTED AS BEING CHECKED IN MY REPORT. HOWEVER, IF YOU CHECKED MY RAW DATA (WHICH I HAD TO PAY EXTRA TO RECEIVE, AND I ONLY RECEIVED A GVCF FILE, RATHER THAN THE MORE TYPICAL FASTQ+BAM+VCF COMBINATION THAT I WOULD PREFER), THEN YOU COULD SEE THE VARIANT CALL FOR MY CYSTIC FIBROSIS VARIANT. SO, IT IS POSSIBLE TO DETERMINE THIS FROM THE DATA GENERATED, EVEN THOUGH MY REPORT SAID I WAS NOT A CYSTIC FIBROSIS CARRIER (WHICH I THINK MAY BE CONFUSING FOR SOME CUSTOMERS, AND THAT IS WHY I SUBMITTED A REPORT). THE COMPANY SPECIFICALLY ADVERTISES CYSTIC FIBROSIS TESTING. FDA SAFETY REPORT ID# (B)(4).

    Devices

    Seq Brand Generic Product Code Manufacturer Model Lot UDI-DI
    321726 MAYO CLINIC GENEGUIDE HELIX GENETIC VARIANT DETECTION AND HEALTH RISK ASSESSMENT SYSTEM PTA UNK

    Patients

    Seq Age Sex Outcome Treatment
    1 33 YR