Scribd Logo
Upload

Welcome to Scribd!

  • Gen Test

    Uploaded by

    Honeylyn Biasura
    5 views2 pages
    This document contains a DNA results statement for an individual named JhonRhix Biasura, showing that genetic testing was performed on their mother, father, and themselves for various genetic conditions and found variants of uncertain significance in 3 genes: GLRA1, PHOX2B, and PIGV. The reason for testing was for diagnostic testing based on a personal and family history of disease, and sequencing analysis and deletion/duplication testing was performed on 304 genes.

    Original Description:

    Copyright

    © © All Rights Reserved

    Available Formats

    PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    Report this Document
    This document contains a DNA results statement for an individual named JhonRhix Biasura, showing that genetic testing was performed on their mother, father, and themselves for various genetic conditions and found variants of uncertain significance in 3 genes: GLRA1, PHOX2B, and PIGV. The reason for testing was for diagnostic testing based on a personal and family history of disease, and sequencing analysis and deletion/duplication testing was performed on 304 genes.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Flag for inappropriate content
    5 views2 pages

    Gen Test

    Uploaded by

    Honeylyn Biasura
    This document contains a DNA results statement for an individual named JhonRhix Biasura, showing that genetic testing was performed on their mother, father, and themselves for various genetic conditions and found variants of uncertain significance in 3 genes: GLRA1, PHOX2B, and PIGV. The reason for testing was for diagnostic testing based on a personal and family history of disease, and sequencing analysis and deletion/duplication testing was performed on 304 genes.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Flag for inappropriate content
    of 2

    Corporate Medi

    aRequest
    s Medi
    calI
    nfor
    mat i
    on
    MyriadNeurosci
    ence j
    maxwel
    l@my r
    iad.
    com medi
    nfo@genesi
    ght
    .com
    6960Ci nt
    asBlvd
    Mason, OH45040 801.
    505.
    5027 855.
    891.
    9415

    DNARESULTSSTATEMENT
    Regist
    rationNo.: 438452057 Name: JhonRhi
    xBi
    asur
    a
    Bi
    rthdate: Jul
    y2020 Sex: Mal
    e
    Result
    sf orCaseNo.AHA43871058-02 DateSent:06/
    08/2021
    ParentageRequestType:ParentVer
    if
    icat
    ion PanelType:SNPPanel

    Name Regi
    str
    ati
    onNumber Resul
    t Dat
    e
    Tested
    Mot her:Honeyl
    ynD.Bi
    asur
    a 43254852 Qual
    i
    fies
    07/24/21
    Father:JoshuaB.Dawang 43078412 Qual
    i
    fies
    07/24/21

    ColorDil
    utor:HomozygousNormal I
    diopat
    hicEpi
    lepsy
    :Homozy
    gousNor
    mal
    07/24/21
    Hypotri
    chosis:HomozygousNor
    mal Mapl
    eSy
    rupUr
    ineDi
    sease:Fr
    ee
    07/24/21
    Mandibulofaci
    alDyst
    osis:Fr
    ee
    07/24/21
    M-EPD
    07/24/21Tested

    MA- EPD
    07/24/21
    Test ed
    Reasonf orTest
    ing Testperfor
    med
    Diagnosti
    ctestforaper
    sonal
    andf
    ami
    l
    y Sequenceanalysi
    sand
    Historyofdi
    sease delet
    ion/
    dupli
    cati
    ontest
    ingoft
    he
    304genes
    l
    i
    stedi
    ntheGenesAnal
    yzedsect
    ion
    RESULT:UNCERTAI
    N
    Var
    iant
    (s)ofUncer
    tai
    nSi
    gni
    fi
    cancei
    dent
    if
    ied
    GENE VARIANT ZYGOSI
    TY VARI
    ANT
    CLASSI
    FICATION
    GLRA1 Gai
    n(Exons1-
    2) copynumber–3 Uncer
    tai
    nSi
    gni
    fi
    cance
    PHOX2B c1813A>T( p.
    Met605Leu) heterozygous Uncer
    tai
    n
    Si
    gni
    fi
    cance
    PI
    GV c644_846del(
    p.Asp282del
    ) het
    erozy
    gous Uncer
    tai
    n
    Si
    gni
    fi
    cance

    You might also like