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Results: 1 to 20 of 78

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

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
4024
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
3923
  • D Deletion/duplication analysis

Baby Genes Newborn Screening Panel

Baby Genes Inc.
United States
6581
  • T Targeted variant analysis

Glycogen storage disease type II

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

Pompe disease

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

Aortic diseases Panel

Health in Code S.L.
Spain
7235
  • C Sequence analysis of the entire coding region

Aortic Valvular Diseases Panel

Health in Code S.L.
Spain
6130
  • C Sequence analysis of the entire coding region

Pan Cardiomyopathy Panel

Blueprint Genetics
Finland
45103
  • C Sequence analysis of the entire coding region

Heart Panel

Blueprint Genetics
Finland
57133
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

GAA. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

GAA. Detection of the mutations p.Glu176ArgfsX45, p.Asp645Glu, p.Gly828_Asn882del, p.Arg854X and c.-32-13T>G (336-13T>G) by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

Glycogen Storage Disease NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
1514
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GAA Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis

GAA Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GAA Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Results: 1 to 20 of 78

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.