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Tests by Gene

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20 May 2022
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  • a

  • ALX3

    ARX

  • c

  • CAPN3

    CAV3

    CDKL5

    CHD7

    CHN1

    COL1A1

    COL1A2

    CYP24A1

  • d

  • DCX

    • DCX Sequencing
    • DCX Deletion/Duplication

    DDX3Y

    DHCR7

    DMD

    • ClariView Panel: Muscular Dystrophy
    • DMD Deletion/Duplication

  • e

  • ELANE

    ERCC6

    • ERCC6 Deletion/Duplication
    • ERCC6 Sequencing

    ERCC8

    • ERCC8 Deletion/Duplication
    • ERCC8 Sequencing

  • f

  • F13A1

    F13B

    F2

    F5

    FANCA

    FANCC

    FANCG

    FGFR1

    FGFR2

    • FGFR2 Sequencing
    • Apert Mutation Analysis

    FGFR3

    • Muenke Syndrome Mutation Analysis
    • Crouzon Syndrome with Acanthosis Nigricans Mutation Analysis
    • Achondroplasia/Hypochondroplasia Mutation Analysis

    FKRP

    FLNA

    • Otopalatodigital Syndrome Select Exons Sequencing
    • Melnick-Needles Syndrome Select Exon Analysis
    • FLNA Sequencing
    • FLNA Deletion/Duplication

    FMR1

    FOXG1

  • g

  • GABRG2

    GALT

    • GALT Sequencing
    • GALT Deletion/Duplication

    GATA1

    GBA

    GJB2

    GJB6

    GLA

    GPR56

  • h

  • HAX1

    HIC1

    HOXA1

  • i

  • IDUA

    IRF6

  • j

  • JAG1

    • JAG1 Sequencing
    • JAG1 Deletion/Duplication

  • k

  • KIF21A

    KRAS

  • l

  • LIS1

    LMNA

  • m

  • MECP2

    • MECP2 Sequencing
    • MECP2 Deletion/Duplication

    MELAS

    MSX1

    MT-TK

    • MERRF Mutation Analysis
    • Mitochondrial tRNA-Lys Mutations

    MT-TL1

    MT-TS1

    MTHFR

    MTRNR

  • n

  • NF1

    NF2

    NLGN3

    NLGN4

    NPHP1

    NSD1

    • NSD1 Sequencing
    • NSD1 Deletion/Duplication

  • o

  • OCA2

    • OCA2 Sequencing
    • OCA2 2.7 kb Deletion

  • p

  • PHOX2A

    PMP22

    PTEN

    • PTEN Sequencing
    • PTEN Deletion/Duplication

    PTPN11

  • r

  • RAF1

    ROBO3

    RPL11

    RPL5

    RPS19

    RPS24

  • s

  • SALL4

    SBDS

    SCN1B

    SGCA

    SGCB

    SGCD

    SGCG

    SLC26A3

    SLC26A4

    SLC9A6

    SMN1 Exon 7

    SOS1

    SPRED1

    • SPRED1 Deletion/Duplication
    • SPRED1 Sequencing

    SRY

    SYNGAP1

  • t

  • TBX22

    TCF4

    • TCF4 Sequencing
    • TCF4 Deletion/Duplication

    TMPRSS6

    TPMT

    TRIM32

    TRPS1 EXT1

    TTTY11

    TUBB3

    TWIST1

    • TWIST1 Sequencing
    • TWIST1 Deletion/Duplication

    TYR

  • u

  • UBE3A

    UGT1A

  • x

  • XPA

    XPC

  • y

  • YWHAE

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MELAS Mutation Analysis
Senior Director Medical Genomics- Software and Bioinformatics

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Latest news:

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  • New Research Sheds Light on Brain Mosaicism in Children with Epilepsy

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About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.

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