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Results: 1 to 20 of 116 (representing 58 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7850
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Fabry Disease

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
21
  • C Sequence analysis of the entire coding region

Pan Cardiomyopathy Panel (62 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
10361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HCM Panel (20 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
4220
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
9853
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fabry disease

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

GLA (Alpha-Galactosidase A) Gene Testing in Fabry Disease

GeneDx
United States
11
  • C Sequence analysis of the entire coding region

GLA Sequence Analysis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Pan Cardiomyopathy Sequencing Panel

PreventionGenetics
United States
8882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypertrophic Cardiomyopathy Sequencing Panel

PreventionGenetics
United States
4438
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fabry

Neurogenetics DNA Diagnostic Laboratory Massachusetts General Hospital
United States
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Cardiology Sequencing Panel

PreventionGenetics
United States
190164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Exome PLUS Proteinuria/FSGS & Hematuria

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2932
  • C Sequence analysis of the entire coding region

alpha-Galactosidase A Deficiency (Known Mutation)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • E Sequence analysis of select exons

Alpha-Galactosidase A Deficiency (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • C Sequence analysis of the entire coding region

Fabry

Health in Code S.L.
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 116

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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