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Tests

20 May 2022
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Test by Test Name

  • 1
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  • n
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  • t
  • u
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  • x
  • y
  • 1

  • 15q13.2-q13.3 Deletion/Duplication
  • 16p11.2 Deletion/Duplication
  • 17q12 Deletion/Duplication
  • 17q21 Deletion/Duplication
  • 1p36 Deletion/Duplication
  • 1q21 Deletion/Duplication
  • a

  • Achondroplasia/Hypochondroplasia Mutation Analysis
  • ALX3 Sequencing
  • Angelman/Prader-Willi Syndrome Methylation and Deletion/Duplication Analysis
  • Apert Mutation Analysis
  • ARX Sequencing
  • c

  • CDKL5 Sequencing
  • CHD7 Sequencing
  • CHN1 Sequencing
  • Claritas Pediatric Neurology Exome
  • Nephrotic Syndrome Panel
  • ClariView Array
  • ClariView Panel: Muscular Dystrophy
  • COL1A1 Sequencing
  • COL1A2 Sequencing
  • Cri du Chat Syndrome Deletion
  • Crouzon Syndrome with Acanthosis Nigricans Mutation Analysis
  • CYP24A1 Sequencing
  • d

  • DCX Deletion/Duplication
  • DCX Sequencing
  • DHCR7 Sequencing
  • DMD Deletion/Duplication
  • e

  • ELANE Sequencing
  • ERCC6 Deletion/Duplication
  • ERCC6 Sequencing
  • ERCC8 Deletion/Duplication
  • ERCC8 Sequencing
  • f

  • F13A1 Sequencing
  • F13B Sequencing
  • Factor V Leiden Mutation Analysis
  • FANCA Sequencing
  • FANCC Sequencing
  • FANCG Sequencing
  • FGFR2 Sequencing
  • FLNA Deletion/Duplication
  • FLNA Sequencing
  • FMR1 CGG Repeat Analysis and Methylation Analysis
  • FOXG1 Sequencing
  • g

  • GAA Sequencing (Pompe disease)
  • GABRG2 Sequencing
  • GALT Deletion/Duplication
  • GALT Sequencing
  • GATA1 Sequencing
  • GBA Sequencing (Gaucher disease)
  • GJB2 Sequencing
  • GJB6 Deletion
  • GLA Sequencing (Fabry disease)
  • GPR56 Sequencing
  • h

  • HAX1 Sequencing
  • HOXA1 Sequencing
  • i

  • IDUA Sequencing (Hurler disease)
  • IRF6 Sequencing
  • j

  • JAG1 Deletion/Duplication
  • JAG1 Sequencing
  • k

  • KIF21A Sequencing
  • KRAS Sequencing
  • l

  • Langer-Giedion Syndrome Deletion
  • m

  • MECP2 Deletion/Duplication
  • MECP2 Sequencing
  • MELAS Mutation Analysis
  • Melnick-Needles Syndrome Select Exon Analysis
  • MERRF Mutation Analysis
  • Miller-Dieker Syndrome Deletion
  • Mitochondrial 12S rRNA Mutations
  • Mitochondrial tRNA-Leu Mutations
  • Mitochondrial tRNA-Lys Mutations
  • Mitochondrial tRNA-Ser Mutations
  • MSX1 Sequencing
  • MTHFR Thermolabile Variant Analysis
  • Muenke Syndrome Mutation Analysis
  • n

  • NF1 Deletion/Duplication
  • NF2 Deletion/Duplication
  • NLGN3 Sequencing
  • NLGN4 Sequencing
  • NPHP1 Sequencing
  • NSD1 Deletion/Duplication
  • NSD1 Sequencing
  • o

  • OCA2 2.7 kb Deletion
  • OCA2 Sequencing
  • Otopalatodigital Syndrome Select Exons Sequencing
  • p

  • Pfeiffer syndrome FGFR1 Mutation Analysis
  • PHOX2A Sequencing
  • PMP22 Deletion/Duplication
  • Prothrombin Mutation Analysis
  • PTEN Deletion/Duplication
  • PTEN Sequencing
  • PTPN11 Sequencing
  • r

  • RAF1 Sequencing
  • ROBO3 Sequencing
  • RPL11 Sequencing
  • RPL5 Sequencing
  • RPS19 Sequencing
  • RPS24 Sequencing
  • Rubinstein-Taybi Syndrome Deletion
  • s

  • SALL4 Sequencing
  • SBDS Sequencing
  • SCN1B Sequencing
  • SLC26A3 Sequencing
  • SLC26A4 Sequencing
  • SLC9A6 Sequencing
  • Smith Magenis Syndrome Deletion
  • SMN1 Exon 7 Deletion/Duplication
  • SMPD1 Sequencing (Niemann-Pick disease)
  • SOS1 Sequencing
  • Specific Mutation Confirmation/Targeted Mutation Analysis
  • SPRED1 Deletion/Duplication
  • SPRED1 Sequencing
  • SYNGAP1 Sequencing
  • t

  • Targeted Mutation Analysis/Specific Mutation Confirmation
  • TBX22 Sequencing
  • TCF4 Deletion/Duplication
  • TCF4 Sequencing
  • TMPRSS6 Sequencing
  • TPMT Haplotype Analysis
  • TUBB3 Sequencing
  • TWIST1 Deletion/Duplication
  • TWIST1 Sequencing
  • TYR Sequencing
  • u

  • UBE3A Sequencing
  • UGT1A TA Repeat Analysis
  • v

  • Velocardiofacial/DiGeorge Syndrome Deletion/Duplication
  • w

  • WAGR Syndrome Deletion
  • Williams Syndrome Deletion
  • Wolf-Hirschhorn Syndrome Deletion
  • x

  • XPA Sequencing
  • XPC Sequencing
  • y

  • Y Chromosome Sequence Detection

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MELAS Mutation Analysis
Senior Director Medical Genomics- Software and Bioinformatics

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