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    Results: 1 to 20 of 82

    Tests names and labsConditionsGenes, analytes, and microbesMethods

    EPG5 Gene Vici syndrome NGS Genetic DNA Test

    DNA Labs India
    India
    11
    • S Mutation scanning of the entire coding region

    EPG5 mutation analysis

    Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
    Netherlands
    11
    • C Sequence analysis of the entire coding region

    Infertility Panel

    Centogene AG - the Rare Disease Company
    Germany
    243238
    • D Deletion/duplication analysis
    • E Sequence analysis of select exons
    • C Sequence analysis of the entire coding region
    • T Targeted variant analysis

    EPG5 - NGS including CNV analysis

    Centogene AG - the Rare Disease Company
    Germany
    11
    • D Deletion/duplication analysis
    • C Sequence analysis of the entire coding region

    CentoNeuro Panel

    Centogene AG - the Rare Disease Company
    Germany
    18861858
    • D Deletion/duplication analysis
    • C Sequence analysis of the entire coding region

    Epilepsy Panel

    Centogene AG - the Rare Disease Company
    Germany
    734744
    • D Deletion/duplication analysis
    • C Sequence analysis of the entire coding region
    • T Targeted variant analysis

    CentoImmuno Panel

    Centogene AG - the Rare Disease Company
    Germany
    323329
    • D Deletion/duplication analysis
    • C Sequence analysis of the entire coding region

    CentoDysmorph Panel

    Centogene AG - the Rare Disease Company
    Germany
    740728
    • D Deletion/duplication analysis
    • C Sequence analysis of the entire coding region

    CentoSkin Panel

    Centogene AG - the Rare Disease Company
    Germany
    157151
    • D Deletion/duplication analysis
    • C Sequence analysis of the entire coding region

    Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

    Labcorp Genetics (formerly Invitae) LabCorp
    United States
    971680
    • D Deletion/duplication analysis

    Invitae Inborn Errors of Immunity and Cytopenias Panel

    Labcorp Genetics (formerly Invitae) LabCorp
    United States
    754562
    • D Deletion/duplication analysis

    Invitae Hypopigmentation Panel

    Labcorp Genetics (formerly Invitae) LabCorp
    United States
    8346
    • D Deletion/duplication analysis

    Vici syndrome, 242840, Autosomal recessive; VICIS (Vici syndrome) (EPG5 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

    Intergen Intergen Genetics and Rare Diseases Diagnosis Center
    Turkey
    11
    • C Sequence analysis of the entire coding region

    Vici syndrome, 242840, Autosomal recessive; VICIS (Vici syndrome) (EPG5 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

    Intergen Intergen Genetics and Rare Diseases Diagnosis Center
    Turkey
    11
    • C Sequence analysis of the entire coding region

    qGenEx Intellectual disability

    Quantitative Genomic Medicine Laboratories, SL
    Spain
    31969
    • S Mutation scanning of the entire coding region
    • C Sequence analysis of the entire coding region

    Invitae Comprehensive Carrier Screen

    Labcorp Genetics (formerly Invitae) LabCorp
    United States
    886547
    • D Deletion/duplication analysis
    • C Sequence analysis of the entire coding region

    Anterior Segment Dysgenesis Disorders Panel

    PreventionGenetics, part of Exact Sciences
    United States
    272278
    • D Deletion/duplication analysis
    • C Sequence analysis of the entire coding region
    • T Targeted variant analysis

    Comprehensive Cataracts Panel

    PreventionGenetics, part of Exact Sciences
    United States
    157171
    • D Deletion/duplication analysis
    • C Sequence analysis of the entire coding region
    • T Targeted variant analysis

    Epilepsy - Intellectual Disability - Autism Spectrum Disorder

    Amplexa Genetics Amplexa Genetics A/S
    Denmark
    1600
    • S Mutation scanning of the entire coding region

    Hypospadias Panel

    PreventionGenetics, part of Exact Sciences
    United States
    15673
    • D Deletion/duplication analysis
    • C Sequence analysis of the entire coding region
    • T Targeted variant analysis

    Results: 1 to 20 of 82

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