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Results: 21 to 40 of 157

Tests names and labsConditionsGenes, analytes, and microbesMethods

Emery-Dreifuss muscular dystrophy 7, AD, 614302, Autosomal dominant; EDMD7 (Emery-Dreifuss muscular dystrophy) (TMEM43 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

Genomic Unity Muscular Dystrophy Analysis

Variantyx, Inc.
United States
451
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
480254
  • 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 Genetic Health Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae 78 Gene Actionable Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Heart Health Test

Color Diagnostics, LLC DBA Color Health
United States
1930
  • C Sequence analysis of the entire coding region

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
361224
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Targeted Cardiomyopathy panel

Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS
Italy
441
  • S Mutation scanning of the entire coding region

RhythmNext®

Ambry Genetics
United States
9142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CMNext®

Ambry Genetics
United States
13856
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CardioNext®

Ambry Genetics
United States
18992
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ARVCNext™

Ambry Genetics
United States
3011
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pan Cardiomyopathy Panel

PreventionGenetics, part of Exact Sciences
United States
112111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Muscular Dystrophy Panel

Genetic Services Laboratory University of Chicago
United States
156
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
224202
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Panel

PreventionGenetics, part of Exact Sciences
United States
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cardiac Arrhythmia Exome Panel

Northwest Clinical Genomics Laboratory University of Washington
United States
3951
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 157

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.