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20 May 2022
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  • 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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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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