BEUDAMED
    FDA Adverse Event Malfunction Summary report: N

    WHOLE GENOME SEQUENCING

    MDR report key: 19090611 · Received April 10, 2024

    Report

    Report Number
    MW5153756
    Event Type
    Malfunction
    Date Received
    April 10, 2024
    Date of Event
    March 12, 2024
    Report Date
    April 6, 2024
    Manufacturer
    UNKNOWN
    Product Code
    PKB
    Product Problem
    Yes
    Report Source
    Voluntary report
    Reporter Location
    MA, US
    Reporter Occupation
    OTHER
    Health Professional
    *

    Narratives

    Description of Event or Problem · 0

    IN (B)(6) 2023 I SUBMITTED A SWAB FROM KIT PROVIDED TO SEQUENCING.COM FOR A WHOLE GENOME SEQUENCING WGS INCLUDING DETECTION OF RARE DISEASES. SWAB WAS TAKEN FROM A PERSON WITH PRADER WILLI SYNDROME PWS. RESULTS RECEIVED (B)(6) 2024 DID NOT INDICATE PWS. COMPANY EXPLANATION IS THAT THEIR WGS DOES NOT DETECT LARGE STRUCTURAL VARIANTS LSG. HOWEVER I HAVE LEARNED THAT WGS IS A POWERFUL TOOL FOR THE DETECTION AND CHARACTERIZATION OF LSV IN THE HUMAN GENOME. PWS IS CONSIDERED A GENETIC DISORDER ASSOCIATED WITH LSV. IN SUMMARY, WGS IS AN EFFECTIVE TOOL FOR DETECTING THE GENETIC ABNORMALITIES UNDERLYING PWS, INCLUDING DELETIONS, UNIPARENTAL DISOMY, AND IMPRINTING DEFECTS IN THE 15Q11-Q13 REGION OF CHROMOSOME 15. THE COMPANY (B)(4) IS NOT RESPONDING TO MY NUMEROUS RECENT EMAILS. I HAVE ALSO CALLED SEVERAL TIMES BUT IT APPEARS THAT (B)(4) DOES NOT HAVE A PROPER OFFICE. I HAVE LEFT PHONE MESSAGES, SOME OF WHICH HAVE BEEN RESPONDED TO BY EMAIL - WITH NO REQUESTED INFORMATION.

    Devices

    Seq Brand Generic Product Code Manufacturer Model Lot UDI-DI
    832817 WHOLE GENOME SEQUENCING AUTOSOMAL RECESSIVE CARRIER SCREENING GENE MUTATION DETECTION SYSTEM PKB UNKNOWN

    Patients

    Seq Age Sex Outcome Treatment
    1 70 YR Female