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Tests by Gene

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  • Tests by Gene
20 May 2022
Test menu

Test by Gene Name

  • a
  • c
  • d
  • e
  • f
  • g
  • h
  • i
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  • k
  • l
  • m
  • n
  • o
  • p
  • r
  • s
  • t
  • u
  • x
  • y

  • 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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